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Volumn , Issue , 2015, Pages 551-592

Dystrophinopathies

Author keywords

Becker muscular dystrophy; DMD gene; DMD gene mutations; DMD associated dilated cardiomyopathy; Duchenne muscular dystrophy; Dystrophin; Dystrophinopathies; Genetic counseling in dystrophinopathies; Manifesting DMD BMD carrier females

Indexed keywords


EID: 84938203211     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-12-417044-5.00030-5     Document Type: Chapter
Times cited : (20)

References (371)
  • 1
    • 0003146456 scopus 로고
    • On granular and fatty degeneration of the voluntary muscles
    • Meryon E. On granular and fatty degeneration of the voluntary muscles. Med Chir Trans 1852, 35:73.
    • (1852) Med Chir Trans , vol.35 , pp. 73
    • Meryon, E.1
  • 4
    • 33745695190 scopus 로고
    • Recherches sur la paralysie musculaire pseudo-hypertrophique, ou paralysie myo-sclerosique
    • Reprint, Johnson, New York, R.H. Wilkins, I.A. Brody (Eds.)
    • Duchenne de Boulogne G.B.A. Recherches sur la paralysie musculaire pseudo-hypertrophique, ou paralysie myo-sclerosique. Neurological Classics 1973, 59-67. Reprint, Johnson, New York. R.H. Wilkins, I.A. Brody (Eds.).
    • (1973) Neurological Classics , pp. 59-67
    • Duchenne de Boulogne, G.B.A.1
  • 5
    • 0000180227 scopus 로고
    • Eine neue X-chromosomale muskeldystrophie
    • Becker P.E., Kiener F. Eine neue X-chromosomale muskeldystrophie. Arch Psychiatr Z Neurol 1955, 193:427.
    • (1955) Arch Psychiatr Z Neurol , vol.193 , pp. 427
    • Becker, P.E.1    Kiener, F.2
  • 6
    • 84981817374 scopus 로고
    • On the inheritance of muscular dystrophy
    • Walton J.N. On the inheritance of muscular dystrophy. Ann Hum Genet 1955, 20:1.
    • (1955) Ann Hum Genet , vol.20 , pp. 1
    • Walton, J.N.1
  • 8
    • 0022972542 scopus 로고
    • Muscular dystrophy in girls with X; autosome translocations
    • Boyd Y., Buckle V., Holt S., Munro E., Hunter D., Craig I. Muscular dystrophy in girls with X; autosome translocations. J Med Genet 1986, 23(6):484-490.
    • (1986) J Med Genet , vol.23 , Issue.6 , pp. 484-490
    • Boyd, Y.1    Buckle, V.2    Holt, S.3    Munro, E.4    Hunter, D.5    Craig, I.6
  • 9
    • 0019918301 scopus 로고
    • Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy
    • Murray J.M., Davies K.E., Harper P.S., Meredith L., Mueller C.R., Williamson R. Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature 1982, 300(5887):69-71.
    • (1982) Nature , vol.300 , Issue.5887 , pp. 69-71
    • Murray, J.M.1    Davies, K.E.2    Harper, P.S.3    Meredith, L.4    Mueller, C.R.5    Williamson, R.6
  • 10
    • 0021111901 scopus 로고
    • Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome
    • Davies K.E., Pearson P.L., Harper P.S., Murray J.M., O'Brien T., Sarfarazi M., et al. Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Res 1983, 11(8):2303-2312.
    • (1983) Nucleic Acids Res , vol.11 , Issue.8 , pp. 2303-2312
    • Davies, K.E.1    Pearson, P.L.2    Harper, P.S.3    Murray, J.M.4    O'Brien, T.5    Sarfarazi, M.6
  • 11
    • 0021839541 scopus 로고
    • Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome
    • Francke U., Ochs H.D., de Martinville B., Giacalone J., Lindgren V., Disteche C., et al. Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet 1985, 37(2):250-267.
    • (1985) Am J Hum Genet , vol.37 , Issue.2 , pp. 250-267
    • Francke, U.1    Ochs, H.D.2    de Martinville, B.3    Giacalone, J.4    Lindgren, V.5    Disteche, C.6
  • 12
    • 0006695192 scopus 로고
    • Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion
    • Kunkel L.M., Monaco A.P., Middlesworth W., Ochs H.D., Latt S.A. Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci USA 1985, 82(14):4778-4782.
    • (1985) Proc Natl Acad Sci USA , vol.82 , Issue.14 , pp. 4778-4782
    • Kunkel, L.M.1    Monaco, A.P.2    Middlesworth, W.3    Ochs, H.D.4    Latt, S.A.5
  • 13
    • 0022444372 scopus 로고
    • Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy
    • Kunkel L.M. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature 1986, 73-77.
    • (1986) Nature , pp. 73-77
    • Kunkel, L.M.1
  • 15
    • 0022347518 scopus 로고
    • Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy
    • Ray P.N., Belfall B., Duff C., Logan C., Kean V., Thompson M.W., et al. Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature 1985, 318(6047):672-675.
    • (1985) Nature , vol.318 , Issue.6047 , pp. 672-675
    • Ray, P.N.1    Belfall, B.2    Duff, C.3    Logan, C.4    Kean, V.5    Thompson, M.W.6
  • 16
  • 17
    • 0023614188 scopus 로고
    • Dystrophin: the protein product of the Duchenne muscular dystrophy locus
    • Hoffman E.P., Brown R.H., Kunkel L.M. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987, 51(6):919-928.
    • (1987) Cell , vol.51 , Issue.6 , pp. 919-928
    • Hoffman, E.P.1    Brown, R.H.2    Kunkel, L.M.3
  • 18
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig M., Hoffman E.P., Bertelson C.J., Monaco A.P., Feener C., Kunkel L.M. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987, 50:509-517.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3    Monaco, A.P.4    Feener, C.5    Kunkel, L.M.6
  • 19
    • 0023904860 scopus 로고
    • The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
    • Koenig M., Monaco A.P., Kunkel L.M. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 1988, 53(2):219-226.
    • (1988) Cell , vol.53 , Issue.2 , pp. 219-226
    • Koenig, M.1    Monaco, A.P.2    Kunkel, L.M.3
  • 20
    • 0023877613 scopus 로고
    • Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide
    • Arahata K., Ishiura S., Ishiguro T., Tsukahara T., Suhara Y., Eguchi C., et al. Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature 1988, 333(6176):861-863.
    • (1988) Nature , vol.333 , Issue.6176 , pp. 861-863
    • Arahata, K.1    Ishiura, S.2    Ishiguro, T.3    Tsukahara, T.4    Suhara, Y.5    Eguchi, C.6
  • 21
    • 0023718395 scopus 로고
    • Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface
    • Bonilla E., Samitt C.E., Miranda A.F., Hays A.P., Salviati G., DiMauro S., et al. Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell 1988, 54(4):447-452.
    • (1988) Cell , vol.54 , Issue.4 , pp. 447-452
    • Bonilla, E.1    Samitt, C.E.2    Miranda, A.F.3    Hays, A.P.4    Salviati, G.5    DiMauro, S.6
  • 22
    • 0023925292 scopus 로고
    • The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle
    • Zubrzycka-Gaarn E.E., Bulman D.E., Karpati G., Burghes A.H., Belfall B., Klamut H.J., et al. The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature 1988, 333:466-469.
    • (1988) Nature , vol.333 , pp. 466-469
    • Zubrzycka-Gaarn, E.E.1    Bulman, D.E.2    Karpati, G.3    Burghes, A.H.4    Belfall, B.5    Klamut, H.J.6
  • 23
    • 84872374881 scopus 로고    scopus 로고
    • The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice
    • Ferlini A., Neri M., Gualandi F. The medical genetics of dystrophinopathies: molecular genetic diagnosis and its impact on clinical practice. Neuromuscul Disord: NMD 2013, 23(1):4-14.
    • (2013) Neuromuscul Disord: NMD , vol.23 , Issue.1 , pp. 4-14
    • Ferlini, A.1    Neri, M.2    Gualandi, F.3
  • 24
    • 0023906647 scopus 로고
    • Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy
    • Hoffman E.P., Fischbeck K.H., Brown R.H., Johnson M., Medori R., Loike J.D., et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 1988, 318(21):1363-1368.
    • (1988) N Engl J Med , vol.318 , Issue.21 , pp. 1363-1368
    • Hoffman, E.P.1    Fischbeck, K.H.2    Brown, R.H.3    Johnson, M.4    Medori, R.5    Loike, J.D.6
  • 25
    • 0023906398 scopus 로고
    • Expression of the putative Duchenne muscular dystrophy gene in differentiated myogenic cell cultures and in the brain
    • Nudel U., Robzyk K., Yaffe D. Expression of the putative Duchenne muscular dystrophy gene in differentiated myogenic cell cultures and in the brain. Nature 1988, 331(6157):635-638.
    • (1988) Nature , vol.331 , Issue.6157 , pp. 635-638
    • Nudel, U.1    Robzyk, K.2    Yaffe, D.3
  • 26
    • 0024595610 scopus 로고
    • Duchenne muscular dystrophy gene product is not identical in muscle and brain
    • Nudel U., Zuk D., Einat P., Zeelon E., Levy Z., Neuman S., et al. Duchenne muscular dystrophy gene product is not identical in muscle and brain. Nature 1989, 337(6202):76-78.
    • (1989) Nature , vol.337 , Issue.6202 , pp. 76-78
    • Nudel, U.1    Zuk, D.2    Einat, P.3    Zeelon, E.4    Levy, Z.5    Neuman, S.6
  • 27
    • 0024582731 scopus 로고
    • Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus
    • Feener C.A., Koenig M., Kunkel L.M. Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature 1989, 338(6215):509-511.
    • (1989) Nature , vol.338 , Issue.6215 , pp. 509-511
    • Feener, C.A.1    Koenig, M.2    Kunkel, L.M.3
  • 28
    • 0026013330 scopus 로고
    • Dystrophin is transcribed in brain from a distant upstream promoter
    • Boyce F.M., Beggs A.H., Feener C., Kunkel L.M. Dystrophin is transcribed in brain from a distant upstream promoter. Proc Natl Acad Sci USA 1991, 88(4):1276-1280.
    • (1991) Proc Natl Acad Sci USA , vol.88 , Issue.4 , pp. 1276-1280
    • Boyce, F.M.1    Beggs, A.H.2    Feener, C.3    Kunkel, L.M.4
  • 29
    • 0026653859 scopus 로고
    • A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues
    • Lederfein D., Levy Z., Augier N., Mornet D., Morris G., Fuchs O., et al. A 71-kilodalton protein is a major product of the Duchenne muscular dystrophy gene in brain and other nonmuscle tissues. Proc Natl Acad Sci USA 1992, 89(12):5346-5350.
    • (1992) Proc Natl Acad Sci USA , vol.89 , Issue.12 , pp. 5346-5350
    • Lederfein, D.1    Levy, Z.2    Augier, N.3    Mornet, D.4    Morris, G.5    Fuchs, O.6
  • 30
    • 0027470203 scopus 로고
    • The structural and functional diversity of dystrophin
    • Ahn A.H., Kunkel L.M. The structural and functional diversity of dystrophin. Nature Genet 1993, 3:283-289.
    • (1993) Nature Genet , vol.3 , pp. 283-289
    • Ahn, A.H.1    Kunkel, L.M.2
  • 31
    • 0028937525 scopus 로고
    • Dp140: a novel 140kDa CNS transcript from the dystrophin locus
    • Lidov H.G., Selig S., Kunkel L.M. Dp140: a novel 140kDa CNS transcript from the dystrophin locus. Hum Mol Genet 1995, 4(3):329-335.
    • (1995) Hum Mol Genet , vol.4 , Issue.3 , pp. 329-335
    • Lidov, H.G.1    Selig, S.2    Kunkel, L.M.3
  • 32
    • 0025933660 scopus 로고
    • Brain-type and muscle-type promoters of the dystrophin gene differ greatly in structure
    • Makover A., Zuk D., Breakstone J., Yaffe D., Nudel U. Brain-type and muscle-type promoters of the dystrophin gene differ greatly in structure. Neuromuscul Disord 1991, 1(1):39-45.
    • (1991) Neuromuscul Disord , vol.1 , Issue.1 , pp. 39-45
    • Makover, A.1    Zuk, D.2    Breakstone, J.3    Yaffe, D.4    Nudel, U.5
  • 33
    • 0026792987 scopus 로고
    • Expression of the Duchenne muscular dystrophy gene products in embryonic stem cells and their differentiated derivatives
    • Rapaport D., Fuchs O., Nudel U., Yaffe D. Expression of the Duchenne muscular dystrophy gene products in embryonic stem cells and their differentiated derivatives. J Biol Chem 1992, 267(30):21289-21292.
    • (1992) J Biol Chem , vol.267 , Issue.30 , pp. 21289-21292
    • Rapaport, D.1    Fuchs, O.2    Nudel, U.3    Yaffe, D.4
  • 34
    • 0027214837 scopus 로고
    • An alternative dystrophin transcript specific to peripheral nerve
    • Byers T.J., Lidov H.G., Kunkel L.M. An alternative dystrophin transcript specific to peripheral nerve. Nat Genet 1993, 4(1):77-81.
    • (1993) Nat Genet , vol.4 , Issue.1 , pp. 77-81
    • Byers, T.J.1    Lidov, H.G.2    Kunkel, L.M.3
  • 36
    • 0026519484 scopus 로고
    • Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development
    • Bies R.D., Phelps S.F., Cortez M.D., Roberts R., Caskey C.T., Chamberlain J.S. Human and murine dystrophin mRNA transcripts are differentially expressed during skeletal muscle, heart, and brain development. Nucleic Acids Res 1992, 20(7):1725-1731.
    • (1992) Nucleic Acids Res , vol.20 , Issue.7 , pp. 1725-1731
    • Bies, R.D.1    Phelps, S.F.2    Cortez, M.D.3    Roberts, R.4    Caskey, C.T.5    Chamberlain, J.S.6
  • 37
    • 0025648083 scopus 로고
    • Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons
    • Lidov H.G., Byers T.J., Watkins S.C., Kunkel L.M. Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature 1990, 348(6303):725-728.
    • (1990) Nature , vol.348 , Issue.6303 , pp. 725-728
    • Lidov, H.G.1    Byers, T.J.2    Watkins, S.C.3    Kunkel, L.M.4
  • 38
    • 0026937998 scopus 로고
    • Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters
    • Gorecki D.C., Monaco A.P., Derry J.M., Walker A.P., Barnard E.A., Barnard P.J. Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters. Hum Mol Genet 1992, 1(7):505-510.
    • (1992) Hum Mol Genet , vol.1 , Issue.7 , pp. 505-510
    • Gorecki, D.C.1    Monaco, A.P.2    Derry, J.M.3    Walker, A.P.4    Barnard, E.A.5    Barnard, P.J.6
  • 39
    • 0027190703 scopus 로고
    • The distribution of dystrophin in the murine central nervous system: an immunocytochemical study
    • Lidov H.G., Byers T.J., Kunkel L.M. The distribution of dystrophin in the murine central nervous system: an immunocytochemical study. Neuroscience 1993, 54(1):167-187.
    • (1993) Neuroscience , vol.54 , Issue.1 , pp. 167-187
    • Lidov, H.G.1    Byers, T.J.2    Kunkel, L.M.3
  • 40
    • 0025609360 scopus 로고
    • A novel product of the Duchenne muscular dystrophy gene which greatly differs from the known isoforms in its structure and tissue distribution
    • Bar S., Barnea E., Levy Z., Neuman S., Yaffe D., Nudel U. A novel product of the Duchenne muscular dystrophy gene which greatly differs from the known isoforms in its structure and tissue distribution. Biochem J 1990, 272(2):557-560.
    • (1990) Biochem J , vol.272 , Issue.2 , pp. 557-560
    • Bar, S.1    Barnea, E.2    Levy, Z.3    Neuman, S.4    Yaffe, D.5    Nudel, U.6
  • 41
    • 0026537398 scopus 로고
    • Characterization and cell type distribution of a novel, major transcript of the Duchenne muscular dystrophy gene
    • Rapaport D., Lederfein D., den Dunnen J.T., Grootscholten P.M., Van Ommen G.J., Fuchs O., et al. Characterization and cell type distribution of a novel, major transcript of the Duchenne muscular dystrophy gene. Differentiation 1992, 49(3):187-193.
    • (1992) Differentiation , vol.49 , Issue.3 , pp. 187-193
    • Rapaport, D.1    Lederfein, D.2    den Dunnen, J.T.3    Grootscholten, P.M.4    Van Ommen, G.J.5    Fuchs, O.6
  • 42
    • 0026732709 scopus 로고
    • Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues
    • Hugnot J.P., Gilgenkrantz H., Vincent N., Chafey P., Morris G.E., Monaco A.P., et al. Distal transcript of the dystrophin gene initiated from an alternative first exon and encoding a 75-kDa protein widely distributed in nonmuscle tissues. Proc Natl Acad Sci USA 1992, 89(16):7506-7510.
    • (1992) Proc Natl Acad Sci USA , vol.89 , Issue.16 , pp. 7506-7510
    • Hugnot, J.P.1    Gilgenkrantz, H.2    Vincent, N.3    Chafey, P.4    Morris, G.E.5    Monaco, A.P.6
  • 43
    • 0025931224 scopus 로고
    • The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle
    • Byers T.J., Kunkel L.M., Watkins S.C. The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle. J Cell Biol 1991, 115(2):411-421.
    • (1991) J Cell Biol , vol.115 , Issue.2 , pp. 411-421
    • Byers, T.J.1    Kunkel, L.M.2    Watkins, S.C.3
  • 46
    • 0024600620 scopus 로고
    • Association of dystrophin and an integral membrane glycoprotein
    • Campbell K.P., Kahl S.D. Association of dystrophin and an integral membrane glycoprotein. Nature 1989, 338(6212):259-262.
    • (1989) Nature , vol.338 , Issue.6212 , pp. 259-262
    • Campbell, K.P.1    Kahl, S.D.2
  • 48
    • 0025815479 scopus 로고
    • Membrane organization of the dystrophin-glycoprotein complex
    • Ervasti J.M., Campbell K.P. Membrane organization of the dystrophin-glycoprotein complex. Cell 1991, 66:1121-1131.
    • (1991) Cell , vol.66 , pp. 1121-1131
    • Ervasti, J.M.1    Campbell, K.P.2
  • 49
    • 0029396750 scopus 로고
    • Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy)
    • Wewer U.M., Durkin M.E., Zhang X., Laursen H., Nielsen N.H., Towfighi J., et al. Laminin beta 2 chain and adhalin deficiency in the skeletal muscle of Walker-Warburg syndrome (cerebro-ocular dysplasia-muscular dystrophy). Neurology 1995, 45:2099-2101.
    • (1995) Neurology , vol.45 , pp. 2099-2101
    • Wewer, U.M.1    Durkin, M.E.2    Zhang, X.3    Laursen, H.4    Nielsen, N.H.5    Towfighi, J.6
  • 50
    • 0026695175 scopus 로고
    • Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminal domain
    • Suzuki A., Yoshida M., Yamamoto H., Ozawa E. Glycoprotein-binding site of dystrophin is confined to the cysteine-rich domain and the first half of the carboxy-terminal domain. FEBS Lett 1992, 308(2):154-160.
    • (1992) FEBS Lett , vol.308 , Issue.2 , pp. 154-160
    • Suzuki, A.1    Yoshida, M.2    Yamamoto, H.3    Ozawa, E.4
  • 51
  • 52
    • 0033617473 scopus 로고    scopus 로고
    • Unexpected modes of PDZ domain scaffolding revealed by structure of nNOS-syntrophin complex
    • Hillier B.J., Christopherson K.S., Prehoda K.E., Bredt D.S., Lim W.A. Unexpected modes of PDZ domain scaffolding revealed by structure of nNOS-syntrophin complex. Science 1999, 284(5415):812-815.
    • (1999) Science , vol.284 , Issue.5415 , pp. 812-815
    • Hillier, B.J.1    Christopherson, K.S.2    Prehoda, K.E.3    Bredt, D.S.4    Lim, W.A.5
  • 53
    • 0024466501 scopus 로고
    • The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion
    • Koenig M., Beggs A.H., Moyer M., Scherpf S., Heindrich K., Bettecken T., et al. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet 1989, 45(4):498-506.
    • (1989) Am J Hum Genet , vol.45 , Issue.4 , pp. 498-506
    • Koenig, M.1    Beggs, A.H.2    Moyer, M.3    Scherpf, S.4    Heindrich, K.5    Bettecken, T.6
  • 54
    • 1042276699 scopus 로고    scopus 로고
    • Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD)
    • Yan J., Feng J., Buzin C.H., Scaringe W., Liu Q., Mendell J.R., et al. Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD). Hum Mutat 2004, 23(2):203-204.
    • (2004) Hum Mutat , vol.23 , Issue.2 , pp. 203-204
    • Yan, J.1    Feng, J.2    Buzin, C.H.3    Scaringe, W.4    Liu, Q.5    Mendell, J.R.6
  • 56
    • 23844539257 scopus 로고    scopus 로고
    • Experience and strategy for the molecular testing of Duchenne muscular dystrophy
    • Prior T.W., Bridgeman S.J. Experience and strategy for the molecular testing of Duchenne muscular dystrophy. J Mol Diagn 2005, 7(3):317-326.
    • (2005) J Mol Diagn , vol.7 , Issue.3 , pp. 317-326
    • Prior, T.W.1    Bridgeman, S.J.2
  • 58
    • 71749114728 scopus 로고    scopus 로고
    • Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort
    • Flanigan K.M., Dunn D.M., von Niederhausern A., Soltanzadeh P., Gappmaier E., Howard M.T., et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Hum Mutat 2009, 30(12):1657-1666.
    • (2009) Hum Mutat , vol.30 , Issue.12 , pp. 1657-1666
    • Flanigan, K.M.1    Dunn, D.M.2    von Niederhausern, A.3    Soltanzadeh, P.4    Gappmaier, E.5    Howard, M.T.6
  • 59
    • 77954158696 scopus 로고    scopus 로고
    • Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center
    • Takeshima Y., Yagi M., Okizuka Y., Awano H., Zhang Z., Yamauchi Y., et al. Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet 2010, 55(6):379-388.
    • (2010) J Hum Genet , vol.55 , Issue.6 , pp. 379-388
    • Takeshima, Y.1    Yagi, M.2    Okizuka, Y.3    Awano, H.4    Zhang, Z.5    Yamauchi, Y.6
  • 60
    • 0036837236 scopus 로고    scopus 로고
    • DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene
    • Dolinsky L.C., de Moura-Neto R.S., Falcao-Conceicao D.N. DGGE analysis as a tool to identify point mutations, de novo mutations and carriers of the dystrophin gene. Neuromuscul Disord 2002, 12(9):845-848.
    • (2002) Neuromuscul Disord , vol.12 , Issue.9 , pp. 845-848
    • Dolinsky, L.C.1    de Moura-Neto, R.S.2    Falcao-Conceicao, D.N.3
  • 62
    • 9144231281 scopus 로고    scopus 로고
    • DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients
    • Hofstra R.M., Mulder I.M., Vossen R., de Koning-Gans P.A., Kraak M., Ginjaar I.B., et al. DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients. Hum Mutat 2004, 23(1):57-66.
    • (2004) Hum Mutat , vol.23 , Issue.1 , pp. 57-66
    • Hofstra, R.M.1    Mulder, I.M.2    Vossen, R.3    de Koning-Gans, P.A.4    Kraak, M.5    Ginjaar, I.B.6
  • 63
    • 2942523954 scopus 로고    scopus 로고
    • Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing
    • Bennett R.R., den Dunnen J., O'Brien K.F., Darras B.T., Kunkel L.M. Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet 2001, 2(1):17.
    • (2001) BMC Genet , vol.2 , Issue.1 , pp. 17
    • Bennett, R.R.1    den Dunnen, J.2    O'Brien, K.F.3    Darras, B.T.4    Kunkel, L.M.5
  • 64
    • 0023745057 scopus 로고
    • Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations
    • Darras B.T., Blattner P., Harper J.F., Spiro A.J., Alter S., Francke U. Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations. Am J Hum Genet 1988, 43(5):620-629.
    • (1988) Am J Hum Genet , vol.43 , Issue.5 , pp. 620-629
    • Darras, B.T.1    Blattner, P.2    Harper, J.F.3    Spiro, A.J.4    Alter, S.5    Francke, U.6
  • 65
    • 0024332141 scopus 로고
    • Dystrophin abnormalities in Duchenne/Becker muscular dystrophy
    • Hoffman E.P., Kunkel L.M. Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron 1989, 2(1):1019-1029.
    • (1989) Neuron , vol.2 , Issue.1 , pp. 1019-1029
    • Hoffman, E.P.1    Kunkel, L.M.2
  • 66
    • 0023718118 scopus 로고
    • An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
    • Monaco A.P., Bertelson C.J., Liechti-Gallati S., Moser H., Kunkel L.M. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988, 2(1):90-95.
    • (1988) Genomics , vol.2 , Issue.1 , pp. 90-95
    • Monaco, A.P.1    Bertelson, C.J.2    Liechti-Gallati, S.3    Moser, H.4    Kunkel, L.M.5
  • 68
    • 0023812570 scopus 로고
    • Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy
    • Malhotra S.B., Hart K.A., Klamut H.J., Thomas N.S., Bodrug S.E., Burghes A.H., et al. Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science 1988, 242(4879):755-759.
    • (1988) Science , vol.242 , Issue.4879 , pp. 755-759
    • Malhotra, S.B.1    Hart, K.A.2    Klamut, H.J.3    Thomas, N.S.4    Bodrug, S.E.5    Burghes, A.H.6
  • 69
    • 0025745162 scopus 로고
    • Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies
    • Beggs A.H., Hoffman E.P., Snyder J.R., Arahata K., Specht L., Shapiro F., et al. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet 1991, 49(1):54-67.
    • (1991) Am J Hum Genet , vol.49 , Issue.1 , pp. 54-67
    • Beggs, A.H.1    Hoffman, E.P.2    Snyder, J.R.3    Arahata, K.4    Specht, L.5    Shapiro, F.6
  • 70
    • 0026049619 scopus 로고
    • Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy
    • Hoffman E.P., Garcia C.A., Chamberlain J.S., Angelini C., Lupski J.R., Fenwick R. Is the carboxyl-terminus of dystrophin required for membrane association? A novel, severe case of Duchenne muscular dystrophy. Ann Neurol 1991, 30(4):605-610.
    • (1991) Ann Neurol , vol.30 , Issue.4 , pp. 605-610
    • Hoffman, E.P.1    Garcia, C.A.2    Chamberlain, J.S.3    Angelini, C.4    Lupski, J.R.5    Fenwick, R.6
  • 71
    • 0026674204 scopus 로고
    • An intact cysteine-rich domain is required for dystrophin function
    • Bies R.D., Caskey C.T., Fenwick R. An intact cysteine-rich domain is required for dystrophin function. J Clin Invest 1992, 90(2):666-672.
    • (1992) J Clin Invest , vol.90 , Issue.2 , pp. 666-672
    • Bies, R.D.1    Caskey, C.T.2    Fenwick, R.3
  • 73
    • 0026587401 scopus 로고
    • A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane
    • Helliwell T.R., Ellis J.M., Mountford R.C., Appleton R.E., Morris G.E. A truncated dystrophin lacking the C-terminal domains is localized at the muscle membrane. Am J Hum Genet 1992, 50(3):508-514.
    • (1992) Am J Hum Genet , vol.50 , Issue.3 , pp. 508-514
    • Helliwell, T.R.1    Ellis, J.M.2    Mountford, R.C.3    Appleton, R.E.4    Morris, G.E.5
  • 74
    • 0024580404 scopus 로고
    • Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies
    • Baumbach L.L., Chamberlain J.S., Ward P.A., Farwell N.J., Caskey C.T. Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurology 1989, 39(4):465-474.
    • (1989) Neurology , vol.39 , Issue.4 , pp. 465-474
    • Baumbach, L.L.1    Chamberlain, J.S.2    Ward, P.A.3    Farwell, N.J.4    Caskey, C.T.5
  • 75
    • 77957211551 scopus 로고
    • Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy
    • Winnard A.V., Klein C.J., Coovert D.D., Prior T., Papp A., Snyder P., et al. Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy. Hum Mol Genet 1993, 2(6):737-744.
    • (1993) Hum Mol Genet , vol.2 , Issue.6 , pp. 737-744
    • Winnard, A.V.1    Klein, C.J.2    Coovert, D.D.3    Prior, T.4    Papp, A.5    Snyder, P.6
  • 76
    • 0025647598 scopus 로고
    • Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies
    • Chelly J., Gilgenkrantz H., Lambert M., Hamard G., Chafey P., Recan D., et al. Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell 1990, 63(6):1239-1248.
    • (1990) Cell , vol.63 , Issue.6 , pp. 1239-1248
    • Chelly, J.1    Gilgenkrantz, H.2    Lambert, M.3    Hamard, G.4    Chafey, P.5    Recan, D.6
  • 77
    • 0026766161 scopus 로고
    • Genetic and clinical correlations of Xp21 muscular dystrophy
    • Bushby K.M. Genetic and clinical correlations of Xp21 muscular dystrophy. J Inherit Metab Dis 1992, 15(4):551-564.
    • (1992) J Inherit Metab Dis , vol.15 , Issue.4 , pp. 551-564
    • Bushby, K.M.1
  • 78
    • 0031038385 scopus 로고    scopus 로고
    • Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletion
    • Prior T.W., Bartolo C., Papp A.C., Snyder P.J., Sedra M.S., Burghes A.H., et al. Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletion. Neurology 1997, 48(2):486-488.
    • (1997) Neurology , vol.48 , Issue.2 , pp. 486-488
    • Prior, T.W.1    Bartolo, C.2    Papp, A.C.3    Snyder, P.J.4    Sedra, M.S.5    Burghes, A.H.6
  • 79
    • 0037302285 scopus 로고    scopus 로고
    • Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype
    • Nevo Y., Muntoni F., Sewry C., Legum C., Kutai M., Harel S., et al. Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype. Isr Med Assoc J 2003, 5(2):94-97.
    • (2003) Isr Med Assoc J , vol.5 , Issue.2 , pp. 94-97
    • Nevo, Y.1    Muntoni, F.2    Sewry, C.3    Legum, C.4    Kutai, M.5    Harel, S.6
  • 81
    • 0027417446 scopus 로고
    • The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities
    • Bushby K.M., Gardner-Medwin D., Nicholson L.V., Johnson M.A., Haggerty I.D., Cleghorn N.J., et al. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities. J Neurol 1993, 240(2):105-112.
    • (1993) J Neurol , vol.240 , Issue.2 , pp. 105-112
    • Bushby, K.M.1    Gardner-Medwin, D.2    Nicholson, L.V.3    Johnson, M.A.4    Haggerty, I.D.5    Cleghorn, N.J.6
  • 83
    • 0026335073 scopus 로고
    • Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy
    • Love D.R., Flint T.J., Genet S.A., Middleton-Price H.R., Davies K.E. Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy. J Med Genet 1991, 28(12):860-864.
    • (1991) J Med Genet , vol.28 , Issue.12 , pp. 860-864
    • Love, D.R.1    Flint, T.J.2    Genet, S.A.3    Middleton-Price, H.R.4    Davies, K.E.5
  • 84
    • 0028104835 scopus 로고
    • Deletions in the 5' region of dystrophin and resulting phenotypes
    • Muntoni F., Gobbi P., Sewry C., Sherratt T., Taylor J., Sandhu S.K., et al. Deletions in the 5' region of dystrophin and resulting phenotypes. J Med Genet 1994, 31(11):843-847.
    • (1994) J Med Genet , vol.31 , Issue.11 , pp. 843-847
    • Muntoni, F.1    Gobbi, P.2    Sewry, C.3    Sherratt, T.4    Taylor, J.5    Sandhu, S.K.6
  • 85
    • 0026073472 scopus 로고
    • Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy
    • Arahata K., Beggs A.H., Honda H., Ito S., Ishiura S., Tsukahara T., et al. Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy. J Neurol Sci 1991, 101(2):148-156.
    • (1991) J Neurol Sci , vol.101 , Issue.2 , pp. 148-156
    • Arahata, K.1    Beggs, A.H.2    Honda, H.3    Ito, S.4    Ishiura, S.5    Tsukahara, T.6
  • 86
    • 0027049446 scopus 로고
    • Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame
    • Nicholson L.V., Bushby K.M., Johnson M.A., den Dunnen J.T., Ginjaar I.B., van Ommen G.J. Predicted and observed sizes of dystrophin in some patients with gene deletions that disrupt the open reading frame. J Med Genet 1992, 29(12):892-896.
    • (1992) J Med Genet , vol.29 , Issue.12 , pp. 892-896
    • Nicholson, L.V.1    Bushby, K.M.2    Johnson, M.A.3    den Dunnen, J.T.4    Ginjaar, I.B.5    van Ommen, G.J.6
  • 87
    • 0030178730 scopus 로고    scopus 로고
    • A case of Becker muscular dystrophy resulting from the skipping of four contiguous exons (71-74) of the dystrophin gene during mRNA maturation
    • Patria S.Y., Alimsardjono H., Nishio H., Takeshima Y., Nakamura H., Matsuo M. A case of Becker muscular dystrophy resulting from the skipping of four contiguous exons (71-74) of the dystrophin gene during mRNA maturation. Proc Assoc Am Physicians 1996, 108(4):308-314.
    • (1996) Proc Assoc Am Physicians , vol.108 , Issue.4 , pp. 308-314
    • Patria, S.Y.1    Alimsardjono, H.2    Nishio, H.3    Takeshima, Y.4    Nakamura, H.5    Matsuo, M.6
  • 88
    • 0028833771 scopus 로고
    • Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production
    • Winnard A.V., Mendell J.R., Prior T.W., Florence J., Burghes A.H. Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production. Am J Hum Genet 1995, 56(1):158-166.
    • (1995) Am J Hum Genet , vol.56 , Issue.1 , pp. 158-166
    • Winnard, A.V.1    Mendell, J.R.2    Prior, T.W.3    Florence, J.4    Burghes, A.H.5
  • 89
    • 0033777239 scopus 로고    scopus 로고
    • Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family
    • Ginjaar I.B., Kneppers A.L., v d Meulen J.D., Anderson L.V., Bremmer-Bout M., van Deutekom J.C., et al. Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family. Eur J Hum Genet: EJHG 2000, 8(10):793-796.
    • (2000) Eur J Hum Genet: EJHG , vol.8 , Issue.10 , pp. 793-796
    • Ginjaar, I.B.1    Kneppers, A.L.2    v d Meulen, J.D.3    Anderson, L.V.4    Bremmer-Bout, M.5    van Deutekom, J.C.6
  • 90
    • 0030725216 scopus 로고    scopus 로고
    • Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy
    • Shiga N., Takeshima Y., Sakamoto H., Inoue K., Yokota Y., Yokoyama M., et al. Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy. J Clin Invest 1997, 100(9):2204-2210.
    • (1997) J Clin Invest , vol.100 , Issue.9 , pp. 2204-2210
    • Shiga, N.1    Takeshima, Y.2    Sakamoto, H.3    Inoue, K.4    Yokota, Y.5    Yokoyama, M.6
  • 91
    • 63749091373 scopus 로고    scopus 로고
    • DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6
    • Gurvich O.L., Maiti B., Weiss R.B., Aggarwal G., Howard M.T., Flanigan K.M. DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6. Hum Mutat 2009, 30(4):633-640.
    • (2009) Hum Mutat , vol.30 , Issue.4 , pp. 633-640
    • Gurvich, O.L.1    Maiti, B.2    Weiss, R.B.3    Aggarwal, G.4    Howard, M.T.5    Flanigan, K.M.6
  • 93
    • 0026672412 scopus 로고
    • Recent developments in the biology of dystrophin and related molecules
    • Karpati G. Recent developments in the biology of dystrophin and related molecules. Curr Opin Neurol Neurosurg 1992, 5(5):615-621.
    • (1992) Curr Opin Neurol Neurosurg , vol.5 , Issue.5 , pp. 615-621
    • Karpati, G.1
  • 94
    • 0027460658 scopus 로고
    • Dystrophin protects the sarcolemma from stresses developed during muscle contraction
    • Petrof B.J., Shrager J.B., Stedman H.H., Kelly A.M., Sweeney H.L. Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl Acad Sci USA 1993, 90(8):3710-3714.
    • (1993) Proc Natl Acad Sci USA , vol.90 , Issue.8 , pp. 3710-3714
    • Petrof, B.J.1    Shrager, J.B.2    Stedman, H.H.3    Kelly, A.M.4    Sweeney, H.L.5
  • 95
    • 0026734187 scopus 로고
    • The membrane hypothesis of Duchenne muscular dystrophy: quest for functional evidence
    • Hutter O.F. The membrane hypothesis of Duchenne muscular dystrophy: quest for functional evidence. J Inherit Metab Dis 1992, 15(4):565-577.
    • (1992) J Inherit Metab Dis , vol.15 , Issue.4 , pp. 565-577
    • Hutter, O.F.1
  • 96
    • 0027176661 scopus 로고
    • Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin
    • Matsumura K., Tome F.M., Ionasescu V., Ervasti J.M., Anderson R.D., Romero N.B., et al. Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin. J Clin Invest 1993, 92(2):866-871.
    • (1993) J Clin Invest , vol.92 , Issue.2 , pp. 866-871
    • Matsumura, K.1    Tome, F.M.2    Ionasescu, V.3    Ervasti, J.M.4    Anderson, R.D.5    Romero, N.B.6
  • 97
    • 0026032731 scopus 로고
    • Decreased osmotic stability of dystrophin-less muscle cells from the mdx mouse
    • Menke A., Jockusch H. Decreased osmotic stability of dystrophin-less muscle cells from the mdx mouse. Nature 1991, 349(6304):69-71.
    • (1991) Nature , vol.349 , Issue.6304 , pp. 69-71
    • Menke, A.1    Jockusch, H.2
  • 98
    • 0028047235 scopus 로고
    • Dystrophin-glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies
    • Matsumura K., Campbell K.P. Dystrophin-glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies. Muscle Nerve 1994, 17(1):2-15.
    • (1994) Muscle Nerve , vol.17 , Issue.1 , pp. 2-15
    • Matsumura, K.1    Campbell, K.P.2
  • 99
    • 0024560908 scopus 로고
    • Segmental necrosis and its demarcation in experimental micropuncture injury of skeletal muscle fibers
    • Carpenter S., Karpati G. Segmental necrosis and its demarcation in experimental micropuncture injury of skeletal muscle fibers. J Neuropathol Exp Neurol 1989, 48(2):154-170.
    • (1989) J Neuropathol Exp Neurol , vol.48 , Issue.2 , pp. 154-170
    • Carpenter, S.1    Karpati, G.2
  • 100
    • 0028932618 scopus 로고
    • Calpains are activated in necrotic fibers from mdx dystrophic mice
    • Spencer M.J., Croall D.E., Tidball J.G. Calpains are activated in necrotic fibers from mdx dystrophic mice. J Biol Chem 1995, 270(18):10909-10914.
    • (1995) J Biol Chem , vol.270 , Issue.18 , pp. 10909-10914
    • Spencer, M.J.1    Croall, D.E.2    Tidball, J.G.3
  • 101
    • 0023028097 scopus 로고
    • Small-caliber skeletal muscle fibers do not suffer deleterious consequences of dystrophic gene expression
    • Karpati G., Carpenter S. Small-caliber skeletal muscle fibers do not suffer deleterious consequences of dystrophic gene expression. Am J Med Genet 1986, 25(4):653-658.
    • (1986) Am J Med Genet , vol.25 , Issue.4 , pp. 653-658
    • Karpati, G.1    Carpenter, S.2
  • 102
    • 0031794742 scopus 로고    scopus 로고
    • Muscle fiber immaturity and inactivity reduce myonecrosis in Duchenne muscular dystrophy
    • Kimura S., Sugino S., Ohtani Y., Matsukura M., Nishino I., Ikezawa M., et al. Muscle fiber immaturity and inactivity reduce myonecrosis in Duchenne muscular dystrophy. Ann Neurol 1998, 44(6):967-971.
    • (1998) Ann Neurol , vol.44 , Issue.6 , pp. 967-971
    • Kimura, S.1    Sugino, S.2    Ohtani, Y.3    Matsukura, M.4    Nishino, I.5    Ikezawa, M.6
  • 103
    • 0030848338 scopus 로고    scopus 로고
    • Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy
    • Grady R.M., Teng H., Nichol M.C., Cunningham J.C., Wilkinson R.S., Sanes J.R. Skeletal and cardiac myopathies in mice lacking utrophin and dystrophin: a model for Duchenne muscular dystrophy. Cell 1997, 90(4):729-738.
    • (1997) Cell , vol.90 , Issue.4 , pp. 729-738
    • Grady, R.M.1    Teng, H.2    Nichol, M.C.3    Cunningham, J.C.4    Wilkinson, R.S.5    Sanes, J.R.6
  • 104
    • 77955634766 scopus 로고    scopus 로고
    • A human-specific deletion in mouse Cmah increases disease severity in the mdx model of Duchenne muscular dystrophy
    • Chandrasekharan K., Yoon J.H., Xu Y., deVries S., Camboni M., Janssen P.M., et al. A human-specific deletion in mouse Cmah increases disease severity in the mdx model of Duchenne muscular dystrophy. Sci Transl Med 2010, 2(42). 42ra54.
    • (2010) Sci Transl Med , vol.2 , Issue.42 , pp. 42-54
    • Chandrasekharan, K.1    Yoon, J.H.2    Xu, Y.3    deVries, S.4    Camboni, M.5    Janssen, P.M.6
  • 105
    • 78650432352 scopus 로고    scopus 로고
    • Short telomeres and stem cell exhaustion model Duchenne muscular dystrophy in mdx/mTR mice
    • Sacco A., Mourkioti F., Tran R., Choi J., Llewellyn M., Kraft P., et al. Short telomeres and stem cell exhaustion model Duchenne muscular dystrophy in mdx/mTR mice. Cell 2010, 143(7):1059-1071.
    • (2010) Cell , vol.143 , Issue.7 , pp. 1059-1071
    • Sacco, A.1    Mourkioti, F.2    Tran, R.3    Choi, J.4    Llewellyn, M.5    Kraft, P.6
  • 106
    • 0033814140 scopus 로고    scopus 로고
    • Molecular basis of muscular dystrophies
    • Cohn R.D., Campbell K.P. Molecular basis of muscular dystrophies. Muscle Nerve 2000, 23(10):1456-1471.
    • (2000) Muscle Nerve , vol.23 , Issue.10 , pp. 1456-1471
    • Cohn, R.D.1    Campbell, K.P.2
  • 107
    • 65649111197 scopus 로고    scopus 로고
    • Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy
    • Lai Y., Thomas G.D., Yue Y., Yang H.T., Li D., Long C., et al. Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy. J Clin Invest 2009, 119(3):624-635.
    • (2009) J Clin Invest , vol.119 , Issue.3 , pp. 624-635
    • Lai, Y.1    Thomas, G.D.2    Yue, Y.3    Yang, H.T.4    Li, D.5    Long, C.6
  • 108
    • 54849414205 scopus 로고    scopus 로고
    • Functional deficits in nNOSmu-deficient skeletal muscle: myopathy in nNOS knockout mice
    • Percival J.M., Anderson K.N., Gregorevic P., Chamberlain J.S., Froehner S.C. Functional deficits in nNOSmu-deficient skeletal muscle: myopathy in nNOS knockout mice. PLOS ONE 2008, 3(10):e3387.
    • (2008) PLOS ONE , vol.3 , Issue.10 , pp. e3387
    • Percival, J.M.1    Anderson, K.N.2    Gregorevic, P.3    Chamberlain, J.S.4    Froehner, S.C.5
  • 109
    • 57049122968 scopus 로고    scopus 로고
    • Sarcolemma-localized nNOS is required to maintain activity after mild exercise
    • Kobayashi Y.M., Rader E.P., Crawford R.W., Iyengar N.K., Thedens D.R., Faulkner J.A., et al. Sarcolemma-localized nNOS is required to maintain activity after mild exercise. Nature 2008, 456(7221):511-515.
    • (2008) Nature , vol.456 , Issue.7221 , pp. 511-515
    • Kobayashi, Y.M.1    Rader, E.P.2    Crawford, R.W.3    Iyengar, N.K.4    Thedens, D.R.5    Faulkner, J.A.6
  • 110
    • 65649112428 scopus 로고    scopus 로고
    • NO more muscle fatigue
    • Heydemann A., McNally E. NO more muscle fatigue. J Clin Invest 2009, 119(3):448-450.
    • (2009) J Clin Invest , vol.119 , Issue.3 , pp. 448-450
    • Heydemann, A.1    McNally, E.2
  • 111
    • 0025932274 scopus 로고
    • Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle
    • Khurana T.S., Watkins S.C., Chafey P., Chelly J., Tome F.M., Fardeau M., et al. Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle. Neuromuscul Disord 1991, 1(3):185-194.
    • (1991) Neuromuscul Disord , vol.1 , Issue.3 , pp. 185-194
    • Khurana, T.S.1    Watkins, S.C.2    Chafey, P.3    Chelly, J.4    Tome, F.M.5    Fardeau, M.6
  • 112
    • 0026094250 scopus 로고
    • Dystrophin-related protein is localized to neuromuscular junctions of adult skeletal muscle
    • Ohlendieck K., Ervasti J.M., Matsumura K., Kahl S.D., Leveille C.J., Campbell K.P. Dystrophin-related protein is localized to neuromuscular junctions of adult skeletal muscle. Neuron 1991, 7(3):499-508.
    • (1991) Neuron , vol.7 , Issue.3 , pp. 499-508
    • Ohlendieck, K.1    Ervasti, J.M.2    Matsumura, K.3    Kahl, S.D.4    Leveille, C.J.5    Campbell, K.P.6
  • 113
    • 0027980295 scopus 로고
    • Increasing complexity of the dystrophin-associated protein complex
    • Tinsley J.M., Blake D.J., Zuellig R.A., Davies K.E. Increasing complexity of the dystrophin-associated protein complex. Proc Natl Acad Sci USA 1994, 91(18):8307-8313.
    • (1994) Proc Natl Acad Sci USA , vol.91 , Issue.18 , pp. 8307-8313
    • Tinsley, J.M.1    Blake, D.J.2    Zuellig, R.A.3    Davies, K.E.4
  • 114
    • 0029921129 scopus 로고    scopus 로고
    • Utrophin: a structural and functional comparison to dystrophin
    • Blake D.J., Tinsley J.M., Davies K.E. Utrophin: a structural and functional comparison to dystrophin. Brain Pathol 1996, 6(1):37-47.
    • (1996) Brain Pathol , vol.6 , Issue.1 , pp. 37-47
    • Blake, D.J.1    Tinsley, J.M.2    Davies, K.E.3
  • 115
    • 0026621608 scopus 로고
    • Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle
    • Matsumura K., Ervasti J.M., Ohlendieck K., Kahl S.D., Campbell K.P. Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle. Nature 1992, 360(6404):588-591.
    • (1992) Nature , vol.360 , Issue.6404 , pp. 588-591
    • Matsumura, K.1    Ervasti, J.M.2    Ohlendieck, K.3    Kahl, S.D.4    Campbell, K.P.5
  • 116
    • 0029906168 scopus 로고    scopus 로고
    • Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene
    • Tinsley J.M., Potter A.C., Phelps S.R., Fisher R., Trickett J.I., Davies K.E. Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature 1996, 384(6607):349-353.
    • (1996) Nature , vol.384 , Issue.6607 , pp. 349-353
    • Tinsley, J.M.1    Potter, A.C.2    Phelps, S.R.3    Fisher, R.4    Trickett, J.I.5    Davies, K.E.6
  • 117
    • 0027243797 scopus 로고
    • Dystrophin and dystrophin-related proteins: a review of protein and RNA studies
    • Love D.R., Byth B.C., Tinsley J.M., Blake D.J., Davies K.E. Dystrophin and dystrophin-related proteins: a review of protein and RNA studies. Neuromuscul Disord 1993, 3(1):5-21.
    • (1993) Neuromuscul Disord , vol.3 , Issue.1 , pp. 5-21
    • Love, D.R.1    Byth, B.C.2    Tinsley, J.M.3    Blake, D.J.4    Davies, K.E.5
  • 118
    • 0028204126 scopus 로고
    • Deficiency of the 50kDa dystrophin-associated glycoprotein and abnormal expression of utrophin in two south Asian cousins with variable expression of severe childhood autosomal recessive muscular dystrophy
    • Sewry C.A., Sansome A., Matsumura K., Campbell K.P., Dubowitz V. Deficiency of the 50kDa dystrophin-associated glycoprotein and abnormal expression of utrophin in two south Asian cousins with variable expression of severe childhood autosomal recessive muscular dystrophy. Neuromuscul Disord 1994, 4(2):121-129.
    • (1994) Neuromuscul Disord , vol.4 , Issue.2 , pp. 121-129
    • Sewry, C.A.1    Sansome, A.2    Matsumura, K.3    Campbell, K.P.4    Dubowitz, V.5
  • 119
    • 0028117937 scopus 로고
    • Absence of dystrophin and utrophin in a boy with severe muscular dystrophy [letter]
    • Chevron M.P., Echenne B., Demaille J. Absence of dystrophin and utrophin in a boy with severe muscular dystrophy [letter]. N Engl J Med 1994, 331(17):1162-1163.
    • (1994) N Engl J Med , vol.331 , Issue.17 , pp. 1162-1163
    • Chevron, M.P.1    Echenne, B.2    Demaille, J.3
  • 120
    • 84872796985 scopus 로고    scopus 로고
    • Dystrophin and utrophin "double knockout" dystrophic mice exhibit a spectrum of degenerative musculoskeletal abnormalities
    • Isaac C., Wright A., Usas A., Li H., Tang Y., Mu X., et al. Dystrophin and utrophin "double knockout" dystrophic mice exhibit a spectrum of degenerative musculoskeletal abnormalities. J Orthop Res 2013, 31(3):343-349.
    • (2013) J Orthop Res , vol.31 , Issue.3 , pp. 343-349
    • Isaac, C.1    Wright, A.2    Usas, A.3    Li, H.4    Tang, Y.5    Mu, X.6
  • 121
    • 84876774284 scopus 로고    scopus 로고
    • Duchenne muscular dystrophy drug discovery-the application of utrophin promoter activation screening
    • Moorwood C., Khurana T.S. Duchenne muscular dystrophy drug discovery-the application of utrophin promoter activation screening. Expert Opin Drug Discov 2013, 8(5):569-581.
    • (2013) Expert Opin Drug Discov , vol.8 , Issue.5 , pp. 569-581
    • Moorwood, C.1    Khurana, T.S.2
  • 123
    • 79955867741 scopus 로고    scopus 로고
    • Daily treatment with SMTC1100, a novel small molecule utrophin upregulator, dramatically reduces the dystrophic symptoms in the mdx mouse
    • Tinsley J.M., Fairclough R.J., Storer R., Wilkes F.J., Potter A.C., Squire S.E., et al. Daily treatment with SMTC1100, a novel small molecule utrophin upregulator, dramatically reduces the dystrophic symptoms in the mdx mouse. PLOS ONE 2011, 6(5):e19189.
    • (2011) PLOS ONE , vol.6 , Issue.5 , pp. e19189
    • Tinsley, J.M.1    Fairclough, R.J.2    Storer, R.3    Wilkes, F.J.4    Potter, A.C.5    Squire, S.E.6
  • 125
    • 0023215586 scopus 로고
    • A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male
    • Darras B.T., Francke U. A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature 1987, 329(6139):556-558.
    • (1987) Nature , vol.329 , Issue.6139 , pp. 556-558
    • Darras, B.T.1    Francke, U.2
  • 127
    • 0041319625 scopus 로고    scopus 로고
    • Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy
    • van Essen A.J., Mulder I.M., van der Vlies P., van der Hout A.H., Buys C.H., Hofstra R.M., et al. Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy. Am J Med Genet A 2003, 118(3):296-298.
    • (2003) Am J Med Genet A , vol.118 , Issue.3 , pp. 296-298
    • van Essen, A.J.1    Mulder, I.M.2    van der Vlies, P.3    van der Hout, A.H.4    Buys, C.H.5    Hofstra, R.M.6
  • 128
    • 0026571472 scopus 로고
    • Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study
    • Van Essen A.J., Abbs S., Bauget M., et al. Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. Hum Genet 1992, 8:249-257.
    • (1992) Hum Genet , vol.8 , pp. 249-257
    • Van Essen, A.J.1    Abbs, S.2    Bauget, M.3
  • 129
    • 0029060891 scopus 로고
    • Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers
    • Matthews P.M., Benjamin D., Van Bakel I., Squier M.V., Nicholson L.V., Sewry C., et al. Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers. Neuromuscul Disord 1995, 5(3):209-220.
    • (1995) Neuromuscul Disord , vol.5 , Issue.3 , pp. 209-220
    • Matthews, P.M.1    Benjamin, D.2    Van Bakel, I.3    Squier, M.V.4    Nicholson, L.V.5    Sewry, C.6
  • 130
    • 0023265839 scopus 로고
    • The clinical consequences of X-chromosome inactivation: Duchenne muscular dystrophy in one of monozygotic twins
    • Pena S.D., Karpati G., Carpenter S., Fraser F.C. The clinical consequences of X-chromosome inactivation: Duchenne muscular dystrophy in one of monozygotic twins. J Neurol Sci 1987, 79(3):337-344.
    • (1987) J Neurol Sci , vol.79 , Issue.3 , pp. 337-344
    • Pena, S.D.1    Karpati, G.2    Carpenter, S.3    Fraser, F.C.4
  • 131
    • 0031036182 scopus 로고    scopus 로고
    • Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy
    • Quan F., Janas J., Toth-Fejel S., Johnson D.B., Wolford J.K., Popovich B.W. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Am J Hum Genet 1997, 60(1):160-165.
    • (1997) Am J Hum Genet , vol.60 , Issue.1 , pp. 160-165
    • Quan, F.1    Janas, J.2    Toth-Fejel, S.3    Johnson, D.B.4    Wolford, J.K.5    Popovich, B.W.6
  • 132
    • 84884588696 scopus 로고    scopus 로고
    • Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK)
    • Moat S.J., Bradley D.M., Salmon R., Clarke A., Hartley L. Newborn bloodspot screening for Duchenne muscular dystrophy: 21 years experience in Wales (UK). Eur J Hum Genet: EJHG 2013, 21(10):1049-1053.
    • (2013) Eur J Hum Genet: EJHG , vol.21 , Issue.10 , pp. 1049-1053
    • Moat, S.J.1    Bradley, D.M.2    Salmon, R.3    Clarke, A.4    Hartley, L.5
  • 133
    • 0014905796 scopus 로고
    • Mutation rate in Duchenne type of muscular dystrophy
    • Gardner-Medwin D. Mutation rate in Duchenne type of muscular dystrophy. J Med Genet 1970, 7(4):334-337.
    • (1970) J Med Genet , vol.7 , Issue.4 , pp. 334-337
    • Gardner-Medwin, D.1
  • 134
    • 0019151724 scopus 로고
    • Duchenne muscular dystrophy. Genetic aspects, carrier detection and antenatal diagnosis
    • Emery A.E. Duchenne muscular dystrophy. Genetic aspects, carrier detection and antenatal diagnosis. Br Med Bull 1980, 36(2):117-122.
    • (1980) Br Med Bull , vol.36 , Issue.2 , pp. 117-122
    • Emery, A.E.1
  • 135
    • 0021358756 scopus 로고
    • Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention
    • Moser H. Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention. Hum Genet 1984, 66(1):17-40.
    • (1984) Hum Genet , vol.66 , Issue.1 , pp. 17-40
    • Moser, H.1
  • 136
    • 0025729071 scopus 로고
    • Prevalence and incidence of Becker muscular dystrophy
    • Bushby K.M., Thambyayah M., Gardner-Medwin D. Prevalence and incidence of Becker muscular dystrophy. Lancet 1991, 337(8748):1022-1024.
    • (1991) Lancet , vol.337 , Issue.8748 , pp. 1022-1024
    • Bushby, K.M.1    Thambyayah, M.2    Gardner-Medwin, D.3
  • 137
    • 0023134992 scopus 로고
    • Population data on benign and severe forms of X-linked muscular dystrophy
    • Mostacciuolo M.L., Lombardi A., Cambissa V., Danieli G.A., Angelini C. Population data on benign and severe forms of X-linked muscular dystrophy. Hum Genet 1987, 75(3):217-220.
    • (1987) Hum Genet , vol.75 , Issue.3 , pp. 217-220
    • Mostacciuolo, M.L.1    Lombardi, A.2    Cambissa, V.3    Danieli, G.A.4    Angelini, C.5
  • 138
    • 0025896339 scopus 로고
    • Epidemiology of progressive muscular dystrophy in Okinawa, Japan. Classification with molecular biological techniques
    • Nakagawa M., Nakahara K., Yoshidome H., Suehara M., Higuchi I., Fujiyama J., et al. Epidemiology of progressive muscular dystrophy in Okinawa, Japan. Classification with molecular biological techniques. Neuroepidemiology 1991, 10(4):185-191.
    • (1991) Neuroepidemiology , vol.10 , Issue.4 , pp. 185-191
    • Nakagawa, M.1    Nakahara, K.2    Yoshidome, H.3    Suehara, M.4    Higuchi, I.5    Fujiyama, J.6
  • 139
    • 77949356580 scopus 로고    scopus 로고
    • Duchenne muscular dystrophy: a 30-year population-based incidence study
    • Dooley J., Gordon K.E., Dodds L., MacSween J. Duchenne muscular dystrophy: a 30-year population-based incidence study. Clin Pediatr (Phila) 2010, 49(2):177-179.
    • (2010) Clin Pediatr (Phila) , vol.49 , Issue.2 , pp. 177-179
    • Dooley, J.1    Gordon, K.E.2    Dodds, L.3    MacSween, J.4
  • 140
    • 70350046640 scopus 로고    scopus 로고
    • Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years-four states
    • Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years-four states, 2007. MMWR Morbidity and mortality weekly report 2009;58(40):1119-22.
    • (2007) MMWR Morbidity and mortality weekly report 2009 , vol.58 , Issue.40 , pp. 1119-1122
  • 141
    • 0027265702 scopus 로고
    • Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy
    • Muntoni F., Cau M., Ganau A., Congiu R., Arvedi G., Mateddu A., et al. Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med 1993, 329(13):921-925.
    • (1993) N Engl J Med , vol.329 , Issue.13 , pp. 921-925
    • Muntoni, F.1    Cau, M.2    Ganau, A.3    Congiu, R.4    Arvedi, G.5    Mateddu, A.6
  • 142
    • 0030920253 scopus 로고    scopus 로고
    • Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy [editorial]
    • Beggs A.H. Dystrophinopathy, the expanding phenotype. Dystrophin abnormalities in X-linked dilated cardiomyopathy [editorial]. Circulation 1997, 95(10):2344-2347.
    • (1997) Circulation , vol.95 , Issue.10 , pp. 2344-2347
    • Beggs, A.H.1
  • 143
    • 0030981051 scopus 로고    scopus 로고
    • Dystrophies and heart disease
    • Cox G.F., Kunkel L.M. Dystrophies and heart disease. Curr Opin Cardiol 1997, 12(3):329-343.
    • (1997) Curr Opin Cardiol , vol.12 , Issue.3 , pp. 329-343
    • Cox, G.F.1    Kunkel, L.M.2
  • 144
    • 0032006681 scopus 로고    scopus 로고
    • The role of cytoskeletal proteins in cardiomyopathies
    • Towbin J.A. The role of cytoskeletal proteins in cardiomyopathies. Curr Opin Cell Biol 1998, 10(1):131-139.
    • (1998) Curr Opin Cell Biol , vol.10 , Issue.1 , pp. 131-139
    • Towbin, J.A.1
  • 145
    • 0028107750 scopus 로고
    • Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: characterization of sub-clinical phenotypes
    • Angelini C., Fanin M., Pegoraro E., Freda M.P., Cadaldini M., Martinello F. Clinical-molecular correlation in 104 mild X-linked muscular dystrophy patients: characterization of sub-clinical phenotypes. Neuromuscul Disord 1994, 4(4):349-358.
    • (1994) Neuromuscul Disord , vol.4 , Issue.4 , pp. 349-358
    • Angelini, C.1    Fanin, M.2    Pegoraro, E.3    Freda, M.P.4    Cadaldini, M.5    Martinello, F.6
  • 146
    • 8044224015 scopus 로고    scopus 로고
    • Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy
    • Melacini P., Fanin M., Danieli G.A., Villanova C., Martinello F., Miorin M., et al. Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy. Circulation 1996, 94(12):3168-3175.
    • (1996) Circulation , vol.94 , Issue.12 , pp. 3168-3175
    • Melacini, P.1    Fanin, M.2    Danieli, G.A.3    Villanova, C.4    Martinello, F.5    Miorin, M.6
  • 148
    • 0028898858 scopus 로고
    • No improvement in delay in diagnosis of Duchenne muscular dystrophy [letter]
    • Marshall P.D., Galasko C.S. No improvement in delay in diagnosis of Duchenne muscular dystrophy [letter]. Lancet 1995, 345(8949):590-591.
    • (1995) Lancet , vol.345 , Issue.8949 , pp. 590-591
    • Marshall, P.D.1    Galasko, C.S.2
  • 149
    • 0020551435 scopus 로고
    • Interviews with parents of boys suffering from Duchenne muscular dystrophy
    • Firth M., Gardner-Medwin D., Hosking G., Wilkinson E. Interviews with parents of boys suffering from Duchenne muscular dystrophy. Dev Med Child Neurol 1983, 25(4):466-471.
    • (1983) Dev Med Child Neurol , vol.25 , Issue.4 , pp. 466-471
    • Firth, M.1    Gardner-Medwin, D.2    Hosking, G.3    Wilkinson, E.4
  • 150
    • 84872153145 scopus 로고    scopus 로고
    • Clinical and pathological features of 50 children with Duchenne's muscular dystrophy
    • Li Q.X., Yang H., Zhang N., Xiao B., Bi F.F., Li J. Clinical and pathological features of 50 children with Duchenne's muscular dystrophy. Zhongguo Dang Dai Er Ke Za Zhi 2012, 14(10):746-750.
    • (2012) Zhongguo Dang Dai Er Ke Za Zhi , vol.14 , Issue.10 , pp. 746-750
    • Li, Q.X.1    Yang, H.2    Zhang, N.3    Xiao, B.4    Bi, F.F.5    Li, J.6
  • 151
    • 0032882445 scopus 로고    scopus 로고
    • The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms
    • Bushby K.M. The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. Hum Mol Genet 1999, 8(10):1875-1882.
    • (1999) Hum Mol Genet , vol.8 , Issue.10 , pp. 1875-1882
    • Bushby, K.M.1
  • 154
    • 17944391884 scopus 로고
    • Sparing of the perineal muscles in muscular dystrophies [letter]
    • Ohtake T., Takahashi R., Nagashima T., Hirose K., Tanabe H. Sparing of the perineal muscles in muscular dystrophies [letter]. J Neurol 1989, 236(4):252.
    • (1989) J Neurol , vol.236 , Issue.4 , pp. 252
    • Ohtake, T.1    Takahashi, R.2    Nagashima, T.3    Hirose, K.4    Tanabe, H.5
  • 156
    • 0019188802 scopus 로고
    • Clinical features and classification of the muscular dystrophies
    • Gardner-Medwin D. Clinical features and classification of the muscular dystrophies. Br Med Bull 1980, 36(2):109-115.
    • (1980) Br Med Bull , vol.36 , Issue.2 , pp. 109-115
    • Gardner-Medwin, D.1
  • 157
    • 0019454467 scopus 로고
    • Loss of strength and functional decline in Duchenne's dystrophy
    • Allsop K.G., Ziter F.A. Loss of strength and functional decline in Duchenne's dystrophy. Arch Neurol 1981, 38(7):406-411.
    • (1981) Arch Neurol , vol.38 , Issue.7 , pp. 406-411
    • Allsop, K.G.1    Ziter, F.A.2
  • 159
    • 84883055833 scopus 로고    scopus 로고
    • The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study
    • McDonald C.M., Henricson E.K., Abresch R.T., Florence J.M., Eagle M., Gappmaier E., et al. The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. Muscle Nerve 2013, 48(3):343-356.
    • (2013) Muscle Nerve , vol.48 , Issue.3 , pp. 343-356
    • McDonald, C.M.1    Henricson, E.K.2    Abresch, R.T.3    Florence, J.M.4    Eagle, M.5    Gappmaier, E.6
  • 160
    • 76549215017 scopus 로고
    • Deep-tendon reflexes in pseudohypertrophic muscular dystrophy: rate and order of loss
    • Perlstein M.A. Deep-tendon reflexes in pseudohypertrophic muscular dystrophy: rate and order of loss. JAMA 1965, 193:540.
    • (1965) JAMA , vol.193 , pp. 540
    • Perlstein, M.A.1
  • 162
    • 0015988206 scopus 로고
    • Pulmonary function in Duchenne muscular dystrophy related to stage of disease
    • Inkley S.R., Oldenburg F.C., Vignos P.J. Pulmonary function in Duchenne muscular dystrophy related to stage of disease. Am J Med 1974, 56(3):297-306.
    • (1974) Am J Med , vol.56 , Issue.3 , pp. 297-306
    • Inkley, S.R.1    Oldenburg, F.C.2    Vignos, P.J.3
  • 164
    • 84869160655 scopus 로고    scopus 로고
    • Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients
    • Passamano L., Taglia A., Palladino A., Viggiano E., D'Ambrosio P., Scutifero M., et al. Improvement of survival in Duchenne Muscular Dystrophy: retrospective analysis of 835 patients. Acta Myol 2012, 31(2):121-125.
    • (2012) Acta Myol , vol.31 , Issue.2 , pp. 121-125
    • Passamano, L.1    Taglia, A.2    Palladino, A.3    Viggiano, E.4    D'Ambrosio, P.5    Scutifero, M.6
  • 165
    • 84869164525 scopus 로고    scopus 로고
    • Survival in Duchenne muscular dystrophy
    • Rall S., Grimm T. Survival in Duchenne muscular dystrophy. Acta Myol 2012, 31(2):117-120.
    • (2012) Acta Myol , vol.31 , Issue.2 , pp. 117-120
    • Rall, S.1    Grimm, T.2
  • 166
    • 34249099687 scopus 로고    scopus 로고
    • Managing Duchenne muscular dystrophy-the additive effect of spinal surgery and home nocturnal ventilation in improving survival
    • Eagle M., Bourke J., Bullock R., Gibson M., Mehta J., Giddings D., et al. Managing Duchenne muscular dystrophy-the additive effect of spinal surgery and home nocturnal ventilation in improving survival. Neuromuscul Disord: NMD 2007, 17(6):470-475.
    • (2007) Neuromuscul Disord: NMD , vol.17 , Issue.6 , pp. 470-475
    • Eagle, M.1    Bourke, J.2    Bullock, R.3    Gibson, M.4    Mehta, J.5    Giddings, D.6
  • 167
    • 0018934507 scopus 로고
    • Echocardiographic evaluation of left ventricular function in Duchenne's muscular dystrophy
    • Farah M.G., Evans E.B., Vignos P.J. Echocardiographic evaluation of left ventricular function in Duchenne's muscular dystrophy. Am J Med 1980, 69(2):248-254.
    • (1980) Am J Med , vol.69 , Issue.2 , pp. 248-254
    • Farah, M.G.1    Evans, E.B.2    Vignos, P.J.3
  • 168
    • 0037276860 scopus 로고    scopus 로고
    • The heart in human dystrophinopathies
    • Finsterer J., Stollberger C. The heart in human dystrophinopathies. Cardiology 2003, 99(1):1-19.
    • (2003) Cardiology , vol.99 , Issue.1 , pp. 1-19
    • Finsterer, J.1    Stollberger, C.2
  • 169
    • 0025017751 scopus 로고
    • The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy
    • Nigro G., Comi L.I., Politano L., Bain R.J. The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol 1990, 26(3):271-277.
    • (1990) Int J Cardiol , vol.26 , Issue.3 , pp. 271-277
    • Nigro, G.1    Comi, L.I.2    Politano, L.3    Bain, R.J.4
  • 170
    • 79960105471 scopus 로고    scopus 로고
    • Electrocardiographic abnormalities in very young Duchenne muscular dystrophy patients precede the onset of cardiac dysfunction
    • James J., Kinnett K., Wang Y., Ittenbach R.F., Benson D.W., Cripe L. Electrocardiographic abnormalities in very young Duchenne muscular dystrophy patients precede the onset of cardiac dysfunction. Neuromuscul Disord: NMD 2011, 21(7):462-467.
    • (2011) Neuromuscul Disord: NMD , vol.21 , Issue.7 , pp. 462-467
    • James, J.1    Kinnett, K.2    Wang, Y.3    Ittenbach, R.F.4    Benson, D.W.5    Cripe, L.6
  • 172
    • 69749085715 scopus 로고    scopus 로고
    • Pericardial effusion with cardiac tamponade as a cardiac manifestation of Duchenne muscular dystrophy
    • Lin J.J., Hwang M.S., Hsia S.H., Chung H.T., Chang Y.S., Lin K.L. Pericardial effusion with cardiac tamponade as a cardiac manifestation of Duchenne muscular dystrophy. Muscle Nerve 2009, 40(3):476-480.
    • (2009) Muscle Nerve , vol.40 , Issue.3 , pp. 476-480
    • Lin, J.J.1    Hwang, M.S.2    Hsia, S.H.3    Chung, H.T.4    Chang, Y.S.5    Lin, K.L.6
  • 173
    • 77952463404 scopus 로고    scopus 로고
    • Myocardial inflammation in Duchenne Muscular Dystrophy as a precipitating factor for heart failure: a prospective study
    • Mavrogeni S., Papavasiliou A., Spargias K., Constandoulakis P., Papadopoulos G., Karanasios E., et al. Myocardial inflammation in Duchenne Muscular Dystrophy as a precipitating factor for heart failure: a prospective study. BMC Neurol 2010, 10:33.
    • (2010) BMC Neurol , vol.10 , pp. 33
    • Mavrogeni, S.1    Papavasiliou, A.2    Spargias, K.3    Constandoulakis, P.4    Papadopoulos, G.5    Karanasios, E.6
  • 174
    • 0034933730 scopus 로고    scopus 로고
    • Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients
    • Cotton S., Voudouris N.J., Greenwood K.M. Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients. Dev Med Child Neurol 2001, 43(7):497-501.
    • (2001) Dev Med Child Neurol , vol.43 , Issue.7 , pp. 497-501
    • Cotton, S.1    Voudouris, N.J.2    Greenwood, K.M.3
  • 176
    • 34247142867 scopus 로고    scopus 로고
    • Delayed developmental language milestones in children with Duchenne's muscular dystrophy
    • Cyrulnik S.E., Fee R.J., De Vivo D.C., Goldstein E., Hinton V.J. Delayed developmental language milestones in children with Duchenne's muscular dystrophy. J Pediatr 2007, 150(5):474-478.
    • (2007) J Pediatr , vol.150 , Issue.5 , pp. 474-478
    • Cyrulnik, S.E.1    Fee, R.J.2    De Vivo, D.C.3    Goldstein, E.4    Hinton, V.J.5
  • 177
    • 0025302511 scopus 로고
    • Early development of boys with Duchenne muscular dystrophy
    • Smith R.A., Sibert J.R., Harper P.S. Early development of boys with Duchenne muscular dystrophy. Dev Med Child Neurol 1990, 32(6):519-527.
    • (1990) Dev Med Child Neurol , vol.32 , Issue.6 , pp. 519-527
    • Smith, R.A.1    Sibert, J.R.2    Harper, P.S.3
  • 179
    • 0031974681 scopus 로고    scopus 로고
    • Reading ability and processing in Duchenne muscular dystrophy and spinal muscular atrophy
    • Billard C., Gillet P., Barthez M., Hommet C., Bertrand P. Reading ability and processing in Duchenne muscular dystrophy and spinal muscular atrophy. Dev Med Child Neurol 1998, 40(1):12-20.
    • (1998) Dev Med Child Neurol , vol.40 , Issue.1 , pp. 12-20
    • Billard, C.1    Gillet, P.2    Barthez, M.3    Hommet, C.4    Bertrand, P.5
  • 180
    • 0023124387 scopus 로고
    • Neuropsychological performance of children with Duchenne muscular dystrophy and spinal muscle atrophy
    • Whelan T.B. Neuropsychological performance of children with Duchenne muscular dystrophy and spinal muscle atrophy. Dev Med Child Neurol 1987, 29(2):212-220.
    • (1987) Dev Med Child Neurol , vol.29 , Issue.2 , pp. 212-220
    • Whelan, T.B.1
  • 181
    • 0034643837 scopus 로고    scopus 로고
    • Poor verbal working memory across intellectual level in boys with Duchenne dystrophy
    • Hinton V.J., De Vivo D.C., Nereo N.E., Goldstein E., Stern Y. Poor verbal working memory across intellectual level in boys with Duchenne dystrophy. Neurology 2000, 54(11):2127-2132.
    • (2000) Neurology , vol.54 , Issue.11 , pp. 2127-2132
    • Hinton, V.J.1    De Vivo, D.C.2    Nereo, N.E.3    Goldstein, E.4    Stern, Y.5
  • 182
    • 0035109506 scopus 로고    scopus 로고
    • Selective deficits in verbal working memory associated with a known genetic etiology: the neuropsychological profile of Duchenne muscular dystrophy
    • Hinton V.J., De Vivo D.C., Nereo N.E., Goldstein E., Stern Y. Selective deficits in verbal working memory associated with a known genetic etiology: the neuropsychological profile of Duchenne muscular dystrophy. J Int Neuropsychol Soc 2001, 7(1):45-54.
    • (2001) J Int Neuropsychol Soc , vol.7 , Issue.1 , pp. 45-54
    • Hinton, V.J.1    De Vivo, D.C.2    Nereo, N.E.3    Goldstein, E.4    Stern, Y.5
  • 183
    • 33845734893 scopus 로고    scopus 로고
    • Investigation of poor academic achievement in children with Duchenne muscular dystrophy
    • Hinton V.J., De Vivo D.C., Fee R., Goldstein E., Stern Y. Investigation of poor academic achievement in children with Duchenne muscular dystrophy. Learn Disabil Res Pract 2004, 19(3):146-154.
    • (2004) Learn Disabil Res Pract , vol.19 , Issue.3 , pp. 146-154
    • Hinton, V.J.1    De Vivo, D.C.2    Fee, R.3    Goldstein, E.4    Stern, Y.5
  • 184
    • 33847391558 scopus 로고    scopus 로고
    • Verbal and memory skills in males with Duchenne muscular dystrophy
    • Hinton V.J., Fee R.J., Goldstein E.M., De Vivo D.C. Verbal and memory skills in males with Duchenne muscular dystrophy. Dev Med Child Neurol 2007, 49(2):123-128.
    • (2007) Dev Med Child Neurol , vol.49 , Issue.2 , pp. 123-128
    • Hinton, V.J.1    Fee, R.J.2    Goldstein, E.M.3    De Vivo, D.C.4
  • 185
    • 33646110743 scopus 로고    scopus 로고
    • Are males with Duchenne muscular dystrophy at risk for reading disabilities?
    • Hendriksen J.G., Vles J.S. Are males with Duchenne muscular dystrophy at risk for reading disabilities?. Pediatr Neurol 2006, 34(4):296-300.
    • (2006) Pediatr Neurol , vol.34 , Issue.4 , pp. 296-300
    • Hendriksen, J.G.1    Vles, J.S.2
  • 186
    • 78650171188 scopus 로고    scopus 로고
    • Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy
    • Wingeier K., Giger E., Strozzi S., Kreis R., Joncourt F., Conrad B., et al. Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy. J Clin Neurosci 2011, 18(1):90-95.
    • (2011) J Clin Neurosci , vol.18 , Issue.1 , pp. 90-95
    • Wingeier, K.1    Giger, E.2    Strozzi, S.3    Kreis, R.4    Joncourt, F.5    Conrad, B.6
  • 187
    • 0023918408 scopus 로고
    • Language and learning disorders of older boys with Duchenne muscular dystrophy
    • Dorman C., Hurley A.D., D'Avignon J. Language and learning disorders of older boys with Duchenne muscular dystrophy. Dev Med Child Neurol 1988, 30(3):316-327.
    • (1988) Dev Med Child Neurol , vol.30 , Issue.3 , pp. 316-327
    • Dorman, C.1    Hurley, A.D.2    D'Avignon, J.3
  • 188
    • 84879211206 scopus 로고    scopus 로고
    • Specific profiles of neurocognitive and reading functions in a sample of 42 Italian boys with Duchenne Muscular Dystrophy
    • Lorusso M.L., Civati F., Molteni M., Turconi A.C., Bresolin N., D'Angelo M.G. Specific profiles of neurocognitive and reading functions in a sample of 42 Italian boys with Duchenne Muscular Dystrophy. Child Neuropsychol 2013, 19(4):350-369.
    • (2013) Child Neuropsychol , vol.19 , Issue.4 , pp. 350-369
    • Lorusso, M.L.1    Civati, F.2    Molteni, M.3    Turconi, A.C.4    Bresolin, N.5    D'Angelo, M.G.6
  • 190
    • 84857342658 scopus 로고    scopus 로고
    • The neuropsychological profile of infantile Duchenne muscular dystrophy
    • Mento G., Tarantino V., Bisiacchi P.S. The neuropsychological profile of infantile Duchenne muscular dystrophy. Clin Neuropsychol 2011, 25(8):1359-1377.
    • (2011) Clin Neuropsychol , vol.25 , Issue.8 , pp. 1359-1377
    • Mento, G.1    Tarantino, V.2    Bisiacchi, P.S.3
  • 191
    • 67649716564 scopus 로고    scopus 로고
    • Neurobehavioral characteristics of children with Duchenne muscular dystrophy
    • Donders J., Taneja C. Neurobehavioral characteristics of children with Duchenne muscular dystrophy. Child Neuropsychol 2009, 15(3):295-304.
    • (2009) Child Neuropsychol , vol.15 , Issue.3 , pp. 295-304
    • Donders, J.1    Taneja, C.2
  • 192
    • 42449160246 scopus 로고    scopus 로고
    • Neuropsychiatric disorders in males with Duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive-compulsive disorder
    • Hendriksen J.G., Vles J.S. Neuropsychiatric disorders in males with Duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive-compulsive disorder. J Child Neurol 2008, 23(5):477-481.
    • (2008) J Child Neurol , vol.23 , Issue.5 , pp. 477-481
    • Hendriksen, J.G.1    Vles, J.S.2
  • 193
    • 33745889037 scopus 로고    scopus 로고
    • Survey of behaviour problems in children with neuromuscular diseases
    • Darke J., Bushby K., Le Couteur A., McConachie H. Survey of behaviour problems in children with neuromuscular diseases. Eur J Paediatr Neurol 2006, 10(3):129-134.
    • (2006) Eur J Paediatr Neurol , vol.10 , Issue.3 , pp. 129-134
    • Darke, J.1    Bushby, K.2    Le Couteur, A.3    McConachie, H.4
  • 194
    • 33845753347 scopus 로고    scopus 로고
    • Social behavior problems in boys with Duchenne muscular dystrophy
    • Hinton V.J., Nereo N.E., Fee R.J., Cyrulnik S.E. Social behavior problems in boys with Duchenne muscular dystrophy. J Dev Behav Pediatr 2006, 27(6):470-476.
    • (2006) J Dev Behav Pediatr , vol.27 , Issue.6 , pp. 470-476
    • Hinton, V.J.1    Nereo, N.E.2    Fee, R.J.3    Cyrulnik, S.E.4
  • 195
    • 31144459504 scopus 로고    scopus 로고
    • Association of Duchenne muscular dystrophy with autism spectrum disorder
    • Wu J.Y., Kuban K.C., Allred E., Shapiro F., Darras B.T. Association of Duchenne muscular dystrophy with autism spectrum disorder. J Child Neurol 2005, 20(10):790-795.
    • (2005) J Child Neurol , vol.20 , Issue.10 , pp. 790-795
    • Wu, J.Y.1    Kuban, K.C.2    Allred, E.3    Shapiro, F.4    Darras, B.T.5
  • 197
    • 0022500990 scopus 로고
    • Psychiatric disorder among boys with Duchenne muscular dystrophy
    • Fitzpatrick C., Barry C., Garvey C. Psychiatric disorder among boys with Duchenne muscular dystrophy. Dev Med Child Neurol 1986, 28(5):589-595.
    • (1986) Dev Med Child Neurol , vol.28 , Issue.5 , pp. 589-595
    • Fitzpatrick, C.1    Barry, C.2    Garvey, C.3
  • 198
    • 80955136711 scopus 로고    scopus 로고
    • Resilience in children diagnosed with a chronic neuromuscular disorder
    • Fee R.J., Hinton V.J. Resilience in children diagnosed with a chronic neuromuscular disorder. J Dev Behav Pediatr 2011, 32(9):644-650.
    • (2011) J Dev Behav Pediatr , vol.32 , Issue.9 , pp. 644-650
    • Fee, R.J.1    Hinton, V.J.2
  • 199
    • 84885085661 scopus 로고    scopus 로고
    • Self-reported quality of life and depressive symptoms in children, adolescents, and adults with Duchenne muscular dystrophy: a cross-sectional survey study
    • Elsenbruch S., Schmid J., Lutz S., Geers B., Schara U. Self-reported quality of life and depressive symptoms in children, adolescents, and adults with Duchenne muscular dystrophy: a cross-sectional survey study. Neuropediatrics 2013, 44(5):257-264.
    • (2013) Neuropediatrics , vol.44 , Issue.5 , pp. 257-264
    • Elsenbruch, S.1    Schmid, J.2    Lutz, S.3    Geers, B.4    Schara, U.5
  • 200
    • 12344314856 scopus 로고    scopus 로고
    • Adult life with Duchenne muscular dystrophy: observations among an emerging and unforeseen patient population
    • Rahbek J., Werge B., Madsen A., Marquardt J., Steffensen B.F., Jeppesen J. Adult life with Duchenne muscular dystrophy: observations among an emerging and unforeseen patient population. Pediatr Rehabil 2005, 8(1):17-28.
    • (2005) Pediatr Rehabil , vol.8 , Issue.1 , pp. 17-28
    • Rahbek, J.1    Werge, B.2    Madsen, A.3    Marquardt, J.4    Steffensen, B.F.5    Jeppesen, J.6
  • 201
    • 0031666477 scopus 로고    scopus 로고
    • Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?
    • Moizard M.P., Billard C., Toutain A., Berret F., Marmin N., Moraine C. Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?. Am J Med Genet 1998, 80(1):32-41.
    • (1998) Am J Med Genet , vol.80 , Issue.1 , pp. 32-41
    • Moizard, M.P.1    Billard, C.2    Toutain, A.3    Berret, F.4    Marmin, N.5    Moraine, C.6
  • 202
    • 0033841262 scopus 로고    scopus 로고
    • Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy
    • Felisari G., Martinelli Boneschi F., Bardoni A., Sironi M., Comi G.P., Robotti M., et al. Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy. Neurology 2000, 55(4):559-564.
    • (2000) Neurology , vol.55 , Issue.4 , pp. 559-564
    • Felisari, G.1    Martinelli Boneschi, F.2    Bardoni, A.3    Sironi, M.4    Comi, G.P.5    Robotti, M.6
  • 204
    • 72149108443 scopus 로고    scopus 로고
    • Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
    • Bushby K., Finkel R., Birnkrant D.J., Case L.E., Clemens P.R., Cripe L., et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010, 9(1):77-93.
    • (2010) Lancet Neurol , vol.9 , Issue.1 , pp. 77-93
    • Bushby, K.1    Finkel, R.2    Birnkrant, D.J.3    Case, L.E.4    Clemens, P.R.5    Cripe, L.6
  • 205
    • 0013977481 scopus 로고
    • Mental deficiency associated with muscular dystrophy. A neuropathological study
    • Rosman N.P., Kakulas B.A. Mental deficiency associated with muscular dystrophy. A neuropathological study. Brain 1966, 89(4):769-788.
    • (1966) Brain , vol.89 , Issue.4 , pp. 769-788
    • Rosman, N.P.1    Kakulas, B.A.2
  • 206
    • 0014630886 scopus 로고
    • The central nervous system in Duchenne muscular dystrophy
    • Dubowitz V., Crome L. The central nervous system in Duchenne muscular dystrophy. Brain 1969, 92(4):805-808.
    • (1969) Brain , vol.92 , Issue.4 , pp. 805-808
    • Dubowitz, V.1    Crome, L.2
  • 207
    • 70349573300 scopus 로고    scopus 로고
    • Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression
    • Daoud F., Angeard N., Demerre B., Martie I., Benyaou R., Leturcq F., et al. Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet 2009, 18(20):3779-3794.
    • (2009) Hum Mol Genet , vol.18 , Issue.20 , pp. 3779-3794
    • Daoud, F.1    Angeard, N.2    Demerre, B.3    Martie, I.4    Benyaou, R.5    Leturcq, F.6
  • 208
    • 77649282617 scopus 로고    scopus 로고
    • Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy
    • Taylor P.J., Betts G.A., Maroulis S., Gilissen C., Pedersen R.L., Mowat D.R., et al. Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLOS ONE 2010, 5(1):e8803.
    • (2010) PLOS ONE , vol.5 , Issue.1 , pp. e8803
    • Taylor, P.J.1    Betts, G.A.2    Maroulis, S.3    Gilissen, C.4    Pedersen, R.L.5    Mowat, D.R.6
  • 209
    • 0023879730 scopus 로고
    • Gastric hypomotility in Duchenne's muscular dystrophy
    • Barohn R.J., Levine E.J., Olson J.O., Mendell J.R. Gastric hypomotility in Duchenne's muscular dystrophy. N Engl J Med 1988, 319(1):151-158.
    • (1988) N Engl J Med , vol.319 , Issue.1 , pp. 151-158
    • Barohn, R.J.1    Levine, E.J.2    Olson, J.O.3    Mendell, J.R.4
  • 211
    • 0033962313 scopus 로고    scopus 로고
    • Bone mineral density and fractures in boys with Duchenne muscular dystrophy
    • Larson C.M., Henderson R.C. Bone mineral density and fractures in boys with Duchenne muscular dystrophy. J Pediatr Orthop 2000, 20(1):71-74.
    • (2000) J Pediatr Orthop , vol.20 , Issue.1 , pp. 71-74
    • Larson, C.M.1    Henderson, R.C.2
  • 212
    • 27644477969 scopus 로고    scopus 로고
    • Analysis of an adult Duchenne muscular dystrophy population
    • Parker A.E., Robb S.A., Chambers J., Davidson A.C., Evans K., O'Dowd J., et al. Analysis of an adult Duchenne muscular dystrophy population. QJM 2005, 98(10):729-736.
    • (2005) QJM , vol.98 , Issue.10 , pp. 729-736
    • Parker, A.E.1    Robb, S.A.2    Chambers, J.3    Davidson, A.C.4    Evans, K.5    O'Dowd, J.6
  • 214
    • 84880956163 scopus 로고    scopus 로고
    • Scoliosis in Duchenne muscular dystrophy (DMD)
    • Hsu J.D., Quinlivan R. Scoliosis in Duchenne muscular dystrophy (DMD). Neuromuscul Disord: NMD 2013, 23(8):611-617.
    • (2013) Neuromuscul Disord: NMD , vol.23 , Issue.8 , pp. 611-617
    • Hsu, J.D.1    Quinlivan, R.2
  • 215
    • 33847073275 scopus 로고    scopus 로고
    • Posterior spinal fusion for scoliosis in Duchenne muscular dystrophy diminishes the rate of respiratory decline
    • Velasco M.V., Colin A.A., Zurakowski D., Darras B.T., Shapiro F. Posterior spinal fusion for scoliosis in Duchenne muscular dystrophy diminishes the rate of respiratory decline. Spine 2007, 32(4):459-465.
    • (2007) Spine , vol.32 , Issue.4 , pp. 459-465
    • Velasco, M.V.1    Colin, A.A.2    Zurakowski, D.3    Darras, B.T.4    Shapiro, F.5
  • 216
    • 84880452050 scopus 로고    scopus 로고
    • The effect of posterior spinal fusion on respiratory function in Duchenne muscular dystrophy
    • Alexander W.M., Smith M., Freeman B.J., Sutherland L.M., Kennedy J.D., Cundy P.J. The effect of posterior spinal fusion on respiratory function in Duchenne muscular dystrophy. Eur Spine J 2013, 22(2):411-416.
    • (2013) Eur Spine J , vol.22 , Issue.2 , pp. 411-416
    • Alexander, W.M.1    Smith, M.2    Freeman, B.J.3    Sutherland, L.M.4    Kennedy, J.D.5    Cundy, P.J.6
  • 217
    • 0001995713 scopus 로고
    • Adverse anaesthetic reactions in Duchenne dystrophy
    • Karpati G., Watters G.V. Adverse anaesthetic reactions in Duchenne dystrophy. Excerpta Medica ICS 1980, 527:206.
    • (1980) Excerpta Medica ICS , vol.527 , pp. 206
    • Karpati, G.1    Watters, G.V.2
  • 218
    • 0020841422 scopus 로고
    • Duchenne's muscular dystrophy and malignant hyperthermia: another warning [letter]
    • Rosenberg H., Heiman-Patterson T. Duchenne's muscular dystrophy and malignant hyperthermia: another warning [letter]. Anesthesiology 1983, 59(4):362.
    • (1983) Anesthesiology , vol.59 , Issue.4 , pp. 362
    • Rosenberg, H.1    Heiman-Patterson, T.2
  • 219
    • 0023878421 scopus 로고
    • Anesthesia-related complications in children with Duchenne muscular dystrophy
    • Sethna N.F., Rockoff M.A., Worthen H.M., Rosnow J.M. Anesthesia-related complications in children with Duchenne muscular dystrophy. Anesthesiology 1988, 68(3):462-465.
    • (1988) Anesthesiology , vol.68 , Issue.3 , pp. 462-465
    • Sethna, N.F.1    Rockoff, M.A.2    Worthen, H.M.3    Rosnow, J.M.4
  • 220
    • 14544283313 scopus 로고    scopus 로고
    • Hyperkalemic cardiac arrest after cardiopulmonary bypass in a child with unsuspected Duchenne muscular dystrophy
    • Nathan A., Ganesh A., Godinez R.I., Nicolson S.C., Greeley W.J. Hyperkalemic cardiac arrest after cardiopulmonary bypass in a child with unsuspected Duchenne muscular dystrophy. Anesth Analg 2005, 100(3):672-674.
    • (2005) Anesth Analg , vol.100 , Issue.3 , pp. 672-674
    • Nathan, A.1    Ganesh, A.2    Godinez, R.I.3    Nicolson, S.C.4    Greeley, W.J.5
  • 221
    • 0021134169 scopus 로고
    • Drug-induced fiber necrosis in Duchenne dystrophy
    • Willner J., Nakagawa M., Wood D. Drug-induced fiber necrosis in Duchenne dystrophy. Ital J Neurol Sci 1984, 5(Suppl. 3):117.
    • (1984) Ital J Neurol Sci , vol.5 , pp. 117
    • Willner, J.1    Nakagawa, M.2    Wood, D.3
  • 222
    • 0017090370 scopus 로고
    • Clinical studies in benign (Becker type) X-linked muscular dystrophy
    • Emery A.E., Skinner R. Clinical studies in benign (Becker type) X-linked muscular dystrophy. Clin Genet 1976, 10(4):189-201.
    • (1976) Clin Genet , vol.10 , Issue.4 , pp. 189-201
    • Emery, A.E.1    Skinner, R.2
  • 223
    • 0017756637 scopus 로고
    • The spectrum of mild X-linked recessive muscular dystrophy
    • Ringel S.P., Carroll J.E., Schold S.C. The spectrum of mild X-linked recessive muscular dystrophy. Arch Neurol 1977, 34(7):408-416.
    • (1977) Arch Neurol , vol.34 , Issue.7 , pp. 408-416
    • Ringel, S.P.1    Carroll, J.E.2    Schold, S.C.3
  • 225
    • 34250073609 scopus 로고
    • The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history
    • Bushby K.M., Gardner-Medwin D. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history. J Neurol 1993, 240(2):98-104.
    • (1993) J Neurol , vol.240 , Issue.2 , pp. 98-104
    • Bushby, K.M.1    Gardner-Medwin, D.2
  • 226
    • 0008655706 scopus 로고
    • Boys with Duchenne and Becker muscular dystrophy are clinically indistinguishable at presentation [abstr].
    • Specht L, Shapiro F. Boys with Duchenne and Becker muscular dystrophy are clinically indistinguishable at presentation [abstr]. Ann Neurol 1990;28:443.
    • (1990) Ann Neurol , vol.28 , pp. 443
    • Specht, L.1    Shapiro, F.2
  • 227
    • 2442743630 scopus 로고
    • Muscular dystrophy, benign X-linked (Becker)
    • North Holland, Amsterdam, P.J. Vinken, G.W. Bruyn (Eds.)
    • Emery A.E.H. Muscular dystrophy, benign X-linked (Becker). Handbook of Clinical Neurology 1982, 86-88. North Holland, Amsterdam. P.J. Vinken, G.W. Bruyn (Eds.).
    • (1982) Handbook of Clinical Neurology , pp. 86-88
    • Emery, A.E.H.1
  • 229
    • 0027198775 scopus 로고
    • Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy
    • Doriguzzi C., Palmucci L., Mongini T., Chiado-Piat L., Restagno G., Ferrone M. Exercise intolerance and recurrent myoglobinuria as the only expression of Xp21 Becker type muscular dystrophy. J Neurol 1993, 240(5):269-271.
    • (1993) J Neurol , vol.240 , Issue.5 , pp. 269-271
    • Doriguzzi, C.1    Palmucci, L.2    Mongini, T.3    Chiado-Piat, L.4    Restagno, G.5    Ferrone, M.6
  • 230
    • 0030032850 scopus 로고    scopus 로고
    • Myalgia and cramps: dystrophinopathy with wide-ranging laboratory findings
    • Samaha F.J., Quinlan J.G. Myalgia and cramps: dystrophinopathy with wide-ranging laboratory findings. J Child Neurol 1996, 11(1):21-24.
    • (1996) J Child Neurol , vol.11 , Issue.1 , pp. 21-24
    • Samaha, F.J.1    Quinlan, J.G.2
  • 231
    • 0023268167 scopus 로고
    • A family of Becker's progressive muscular dystrophy with severe cardiomyopathy
    • Yazawa M., Ikeda S., Owa M., Haruta S., Yanagisawa N., Tanaka E., et al. A family of Becker's progressive muscular dystrophy with severe cardiomyopathy. Eur Neurol 1987, 27(1):13-19.
    • (1987) Eur Neurol , vol.27 , Issue.1 , pp. 13-19
    • Yazawa, M.1    Ikeda, S.2    Owa, M.3    Haruta, S.4    Yanagisawa, N.5    Tanaka, E.6
  • 233
    • 0024411920 scopus 로고
    • Cardiac transplantation in a patient with muscular dystrophy and cardiomyopathy
    • Donofrio P.D., Challa V.R., Hackshaw B.T., Mills S.A., Cordell A.R. Cardiac transplantation in a patient with muscular dystrophy and cardiomyopathy. Arch Neurol 1989, 46(6):705-707.
    • (1989) Arch Neurol , vol.46 , Issue.6 , pp. 705-707
    • Donofrio, P.D.1    Challa, V.R.2    Hackshaw, B.T.3    Mills, S.A.4    Cordell, A.R.5
  • 234
    • 0032718905 scopus 로고    scopus 로고
    • Cardiac involvement in Becker's muscular dystrophy, necessitating heart transplantation, 6 years before apparent skeletal muscle involvement
    • Finsterer J., Bittner R.E., Grimm M. Cardiac involvement in Becker's muscular dystrophy, necessitating heart transplantation, 6 years before apparent skeletal muscle involvement. Neuromuscul Disord 1999, 9(8):598-600.
    • (1999) Neuromuscul Disord , vol.9 , Issue.8 , pp. 598-600
    • Finsterer, J.1    Bittner, R.E.2    Grimm, M.3
  • 235
    • 84866520610 scopus 로고    scopus 로고
    • A case of Becker muscular dystrophy with early manifestation of cardiomyopathy
    • Doo K.H., Ryu H.W., Kim S.S., Lim B.C., Hwang H., Kim K.J., et al. A case of Becker muscular dystrophy with early manifestation of cardiomyopathy. Korean J Pediatr 2012, 55(9):350-353.
    • (2012) Korean J Pediatr , vol.55 , Issue.9 , pp. 350-353
    • Doo, K.H.1    Ryu, H.W.2    Kim, S.S.3    Lim, B.C.4    Hwang, H.5    Kim, K.J.6
  • 236
    • 77449132523 scopus 로고    scopus 로고
    • Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in Becker muscular dystrophy
    • Kaspar R.W., Allen H.D., Ray W.C., Alvarez C.E., Kissel J.T., Pestronk A., et al. Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in Becker muscular dystrophy. Circ Cardiovasc Genet 2009, 2(6):544-551.
    • (2009) Circ Cardiovasc Genet , vol.2 , Issue.6 , pp. 544-551
    • Kaspar, R.W.1    Allen, H.D.2    Ray, W.C.3    Alvarez, C.E.4    Kissel, J.T.5    Pestronk, A.6
  • 237
    • 0025262104 scopus 로고
    • Becker muscular dystrophy: correlation of deletion type with clinical severity
    • Norman A.M., Thomas N.S., Kingston H.M., Harper P.S. Becker muscular dystrophy: correlation of deletion type with clinical severity. J Med Genet 1990, 27(4):236-239.
    • (1990) J Med Genet , vol.27 , Issue.4 , pp. 236-239
    • Norman, A.M.1    Thomas, N.S.2    Kingston, H.M.3    Harper, P.S.4
  • 238
    • 0028027687 scopus 로고
    • Becker muscular dystrophy with onset after 60 years
    • Heald A., Anderson L.V., Bushby K.M., Shaw P.J. Becker muscular dystrophy with onset after 60 years. Neurology 1994, 44(12):2388-2390.
    • (1994) Neurology , vol.44 , Issue.12 , pp. 2388-2390
    • Heald, A.1    Anderson, L.V.2    Bushby, K.M.3    Shaw, P.J.4
  • 239
    • 0032848317 scopus 로고    scopus 로고
    • Clinical characteristics of aged Becker muscular dystrophy patients with onset after 30 years
    • Yazaki M., Yoshida K., Nakamura A., Koyama J., Nanba T., Ohori N., et al. Clinical characteristics of aged Becker muscular dystrophy patients with onset after 30 years. Eur Neurol 1999, 42(3):145-149.
    • (1999) Eur Neurol , vol.42 , Issue.3 , pp. 145-149
    • Yazaki, M.1    Yoshida, K.2    Nakamura, A.3    Koyama, J.4    Nanba, T.5    Ohori, N.6
  • 241
    • 0020522923 scopus 로고
    • Clinical investigation in Duchenne dystrophy: 2. Determination of the "power" of therapeutic trials based on the natural history
    • Brooke M.H., Fenichel G.M., Griggs R.C., Mendell J.R., Moxley R., Miller J.P., et al. Clinical investigation in Duchenne dystrophy: 2. Determination of the "power" of therapeutic trials based on the natural history. Muscle Nerve 1983, 6(2):91-103.
    • (1983) Muscle Nerve , vol.6 , Issue.2 , pp. 91-103
    • Brooke, M.H.1    Fenichel, G.M.2    Griggs, R.C.3    Mendell, J.R.4    Moxley, R.5    Miller, J.P.6
  • 242
    • 0023215347 scopus 로고
    • X-linked dilated cardiomyopathy
    • Berko B.A., Swift M. X-linked dilated cardiomyopathy. N Engl J Med 1987, 316(19):1186-1191.
    • (1987) N Engl J Med , vol.316 , Issue.19 , pp. 1186-1191
    • Berko, B.A.1    Swift, M.2
  • 243
    • 0027193330 scopus 로고
    • X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus
    • Towbin J.A., Hejtmancik J.F., Brink P., Gelb B., Zhu X.M., Chamberlain J.S., et al. X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 1993, 87(6):1854-1865.
    • (1993) Circulation , vol.87 , Issue.6 , pp. 1854-1865
    • Towbin, J.A.1    Hejtmancik, J.F.2    Brink, P.3    Gelb, B.4    Zhu, X.M.5    Chamberlain, J.S.6
  • 245
    • 0027482335 scopus 로고
    • Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy
    • Yoshida K., Ikeda S., Nakamura A., Kagoshima M., Takeda S., Shoji S., et al. Molecular analysis of the Duchenne muscular dystrophy gene in patients with Becker muscular dystrophy presenting with dilated cardiomyopathy. Muscle Nerve 1993, 16(11):1161-1166.
    • (1993) Muscle Nerve , vol.16 , Issue.11 , pp. 1161-1166
    • Yoshida, K.1    Ikeda, S.2    Nakamura, A.3    Kagoshima, M.4    Takeda, S.5    Shoji, S.6
  • 247
    • 36248985708 scopus 로고    scopus 로고
    • Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human
    • Neri M., Torelli S., Brown S., Ugo I., Sabatelli P., Merlini L., et al. Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human. Neuromuscul Disord: NMD 2007, 17(11-12):913-918.
    • (2007) Neuromuscul Disord: NMD , vol.17 , Issue.11-12 , pp. 913-918
    • Neri, M.1    Torelli, S.2    Brown, S.3    Ugo, I.4    Sabatelli, P.5    Merlini, L.6
  • 249
    • 0030028518 scopus 로고    scopus 로고
    • A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyoathy
    • Milasin J., Muntoni F., Severini G.M., Bartoloni L., Vatta M., Krajinovic M., et al. A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyoathy. Hum Mol Genet 1996, 5:73-79.
    • (1996) Hum Mol Genet , vol.5 , pp. 73-79
    • Milasin, J.1    Muntoni, F.2    Severini, G.M.3    Bartoloni, L.4    Vatta, M.5    Krajinovic, M.6
  • 250
    • 0031779422 scopus 로고    scopus 로고
    • Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy
    • Yoshida K., Nakamura A., Yazaki M., Ikeda S., Takeda S. Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy. Hum Mol Genet 1998, 7(7):1129-1132.
    • (1998) Hum Mol Genet , vol.7 , Issue.7 , pp. 1129-1132
    • Yoshida, K.1    Nakamura, A.2    Yazaki, M.3    Ikeda, S.4    Takeda, S.5
  • 251
    • 84858975848 scopus 로고    scopus 로고
    • The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5'. X-linked dilated cardiomyopathy
    • Neri M., Valli E., Alfano G., Bovolenta M., Spitali P., Rapezzi C., et al. The absence of dystrophin brain isoform expression in healthy human heart ventricles explains the pathogenesis of 5'. X-linked dilated cardiomyopathy. BMC Med Genet 2012, 13:20.
    • (2012) BMC Med Genet , vol.13 , pp. 20
    • Neri, M.1    Valli, E.2    Alfano, G.3    Bovolenta, M.4    Spitali, P.5    Rapezzi, C.6
  • 252
    • 0028812128 scopus 로고
    • Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family witih X-linked dilated cardiomyopathy
    • Muntoni F., Melis M.A., Ganau A., Dubowitz V. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family witih X-linked dilated cardiomyopathy. Am J Hum Genet 1995, 56:151-157.
    • (1995) Am J Hum Genet , vol.56 , pp. 151-157
    • Muntoni, F.1    Melis, M.A.2    Ganau, A.3    Dubowitz, V.4
  • 253
    • 0029114103 scopus 로고
    • A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart
    • Muntoni F., Wilson L., Marrosu G., Marrosu M.G., Cianchetti C., Mestroni L., et al. A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. J Clin Invest 1995, 96:693-699.
    • (1995) J Clin Invest , vol.96 , pp. 693-699
    • Muntoni, F.1    Wilson, L.2    Marrosu, G.3    Marrosu, M.G.4    Cianchetti, C.5    Mestroni, L.6
  • 254
    • 0030922569 scopus 로고    scopus 로고
    • Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy
    • Ortiz-Lopez R., Li H., Su J., Goytia V., Towbin J.A. Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. Circulation 1997, 95(10):2434-2440.
    • (1997) Circulation , vol.95 , Issue.10 , pp. 2434-2440
    • Ortiz-Lopez, R.1    Li, H.2    Su, J.3    Goytia, V.4    Towbin, J.A.5
  • 255
    • 33747425933 scopus 로고    scopus 로고
    • Cardiac sodium channel Nav1.5 is regulated by a multiprotein complex composed of syntrophins and dystrophin
    • Gavillet B., Rougier J.S., Domenighetti A.A., Behar R., Boixel C., Ruchat P., et al. Cardiac sodium channel Nav1.5 is regulated by a multiprotein complex composed of syntrophins and dystrophin. Circ Res 2006, 99(4):407-414.
    • (2006) Circ Res , vol.99 , Issue.4 , pp. 407-414
    • Gavillet, B.1    Rougier, J.S.2    Domenighetti, A.A.3    Behar, R.4    Boixel, C.5    Ruchat, P.6
  • 256
    • 0034711744 scopus 로고    scopus 로고
    • Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family
    • Palmucci L., Mongini T., Chiado-Piat L., Doriguzzi C., Fubini A. Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family. Neurology 2000, 54(2):529-530.
    • (2000) Neurology , vol.54 , Issue.2 , pp. 529-530
    • Palmucci, L.1    Mongini, T.2    Chiado-Piat, L.3    Doriguzzi, C.4    Fubini, A.5
  • 257
    • 0024455248 scopus 로고
    • Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene
    • Gospe S.M., Lazaro R.P., Lava N.S., Grootscholten P.M., Scott M.O., Fischbeck K.H. Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. Neurology 1989, 39(10):1277-1280.
    • (1989) Neurology , vol.39 , Issue.10 , pp. 1277-1280
    • Gospe, S.M.1    Lazaro, R.P.2    Lava, N.S.3    Grootscholten, P.M.4    Scott, M.O.5    Fischbeck, K.H.6
  • 258
    • 0026810284 scopus 로고
    • Brief communication: Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis
    • Gold R., Kress W., Meurers B., Meng G., Reichmann H., Muller C.R. Brief communication: Becker muscular dystrophy: detection of unusual disease courses by combined approach to dystrophin analysis. Muscle Nerve 1992, 15:214-218.
    • (1992) Muscle Nerve , vol.15 , pp. 214-218
    • Gold, R.1    Kress, W.2    Meurers, B.3    Meng, G.4    Reichmann, H.5    Muller, C.R.6
  • 260
    • 0031798117 scopus 로고    scopus 로고
    • Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families
    • Melis M.A., Cau M., Muntoni F., Mateddu A., Galanello R., Boccone L., et al. Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families. Eur J Paediatr Neurol 1998, 2(5):255-261.
    • (1998) Eur J Paediatr Neurol , vol.2 , Issue.5 , pp. 255-261
    • Melis, M.A.1    Cau, M.2    Muntoni, F.3    Mateddu, A.4    Galanello, R.5    Boccone, L.6
  • 261
  • 262
    • 6344293899 scopus 로고    scopus 로고
    • C-terminal truncated dystrophin identified in skeletal muscle of an asymptomatic boy with a novel nonsense mutation of the dystrophin gene
    • Suminaga R., Takeshima Y., Wada H., Yagi M., Matsuo M. C-terminal truncated dystrophin identified in skeletal muscle of an asymptomatic boy with a novel nonsense mutation of the dystrophin gene. Pediatr Res 2004, 56(5):739-743.
    • (2004) Pediatr Res , vol.56 , Issue.5 , pp. 739-743
    • Suminaga, R.1    Takeshima, Y.2    Wada, H.3    Yagi, M.4    Matsuo, M.5
  • 263
    • 0016173374 scopus 로고
    • The manifesting carrier in Duchenne muscular dystrophy
    • Moser H., Emery A.E. The manifesting carrier in Duchenne muscular dystrophy. Clin Genet 1974, 5(4):271-284.
    • (1974) Clin Genet , vol.5 , Issue.4 , pp. 271-284
    • Moser, H.1    Emery, A.E.2
  • 264
    • 0024334813 scopus 로고
    • A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales
    • Norman A., Harper P. A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales. Clin Genet 1989, 36(1):31-37.
    • (1989) Clin Genet , vol.36 , Issue.1 , pp. 31-37
    • Norman, A.1    Harper, P.2
  • 266
    • 0020027994 scopus 로고
    • Progressive muscle disease in a young woman with family history of Duchenne's muscular dystrophy
    • Olson B.J., Fenichel G.M. Progressive muscle disease in a young woman with family history of Duchenne's muscular dystrophy. Arch Neurol 1982, 39(6):378-380.
    • (1982) Arch Neurol , vol.39 , Issue.6 , pp. 378-380
    • Olson, B.J.1    Fenichel, G.M.2
  • 267
    • 0033583984 scopus 로고    scopus 로고
    • Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study
    • Hoogerwaard E.M., Bakker E., Ippel P.F., Oosterwijk J.C., Majoor-Krakauer D.F., Leschot N.J., et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 1999, 353(9170):2116-2119.
    • (1999) Lancet , vol.353 , Issue.9170 , pp. 2116-2119
    • Hoogerwaard, E.M.1    Bakker, E.2    Ippel, P.F.3    Oosterwijk, J.C.4    Majoor-Krakauer, D.F.5    Leschot, N.J.6
  • 269
    • 0025642594 scopus 로고
    • A manifesting carrier of Duchenne muscular dystrophy with severe myocardial symptoms
    • Kamakura K., Kawai M., Arahata K., Koizumi H., Watanabe K., Sugita H. A manifesting carrier of Duchenne muscular dystrophy with severe myocardial symptoms. J Neurol 1990, 237(8):483-485.
    • (1990) J Neurol , vol.237 , Issue.8 , pp. 483-485
    • Kamakura, K.1    Kawai, M.2    Arahata, K.3    Koizumi, H.4    Watanabe, K.5    Sugita, H.6
  • 270
  • 271
    • 0037306124 scopus 로고    scopus 로고
    • Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies
    • Nolan M.A., Jones O.D., Pedersen R.L., Johnston H.M. Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies. Neuromuscul Disord 2003, 13(2):129-132.
    • (2003) Neuromuscul Disord , vol.13 , Issue.2 , pp. 129-132
    • Nolan, M.A.1    Jones, O.D.2    Pedersen, R.L.3    Johnston, H.M.4
  • 273
    • 0027463189 scopus 로고
    • Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy
    • Muntoni F., Mateddu A., Cianchetti C., Marrosu M.G., Clerk A., Cau M., et al. Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy. J Neurol Neurosurg Psychiatry 1993, 56(1):26-31.
    • (1993) J Neurol Neurosurg Psychiatry , vol.56 , Issue.1 , pp. 26-31
    • Muntoni, F.1    Mateddu, A.2    Cianchetti, C.3    Marrosu, M.G.4    Clerk, A.5    Cau, M.6
  • 274
    • 33646205958 scopus 로고    scopus 로고
    • Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy
    • Katayama Y., Tran V.K., Hoan N.T., Zhang Z., Goji K., Yagi M., et al. Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy. Hum Genet 2006, 119(5):516-519.
    • (2006) Hum Genet , vol.119 , Issue.5 , pp. 516-519
    • Katayama, Y.1    Tran, V.K.2    Hoan, N.T.3    Zhang, Z.4    Goji, K.5    Yagi, M.6
  • 275
    • 0031740808 scopus 로고    scopus 로고
    • Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers
    • Sumita D.R., Vainzof M., Campiotto S., Cerqueira A.M., Canovas M., Otto P.A., et al. Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers. Am J Med Genet 1998, 80(4):356-361.
    • (1998) Am J Med Genet , vol.80 , Issue.4 , pp. 356-361
    • Sumita, D.R.1    Vainzof, M.2    Campiotto, S.3    Cerqueira, A.M.4    Canovas, M.5    Otto, P.A.6
  • 277
    • 23444458594 scopus 로고
    • Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females
    • Pegoraro E., Schimke R.N., Arahata K., Hayashi Y., Stern H., Marks H., et al. Detection of new paternal dystrophin gene mutations in isolated cases of dystrophinopathy in females. Am J Hum Genet 1994, 54(6):989-1003.
    • (1994) Am J Hum Genet , vol.54 , Issue.6 , pp. 989-1003
    • Pegoraro, E.1    Schimke, R.N.2    Arahata, K.3    Hayashi, Y.4    Stern, H.5    Marks, H.6
  • 278
    • 84881611731 scopus 로고    scopus 로고
    • Comparison of X-chromosome inactivation in Duchenne muscle/myocardium-manifesting carriers, non-manifesting carriers and related daughters
    • Viggiano E., Picillo E., Cirillo A., Politano L. Comparison of X-chromosome inactivation in Duchenne muscle/myocardium-manifesting carriers, non-manifesting carriers and related daughters. Clin Genet 2013, 84(3):265-270.
    • (2013) Clin Genet , vol.84 , Issue.3 , pp. 265-270
    • Viggiano, E.1    Picillo, E.2    Cirillo, A.3    Politano, L.4
  • 279
    • 0025733349 scopus 로고
    • Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy
    • Lupski J.R., Garcia C.A., Zoghbi H.Y., Hoffman E.P., Fenwick R.G. Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy. Am J Med Genet 1991, 40(3):354-364.
    • (1991) Am J Med Genet , vol.40 , Issue.3 , pp. 354-364
    • Lupski, J.R.1    Garcia, C.A.2    Zoghbi, H.Y.3    Hoffman, E.P.4    Fenwick, R.G.5
  • 280
    • 0027410123 scopus 로고
    • In situ hybridization shows direct evidence of skewed X inactivation in one of monozygotic twin females manifesting Duchenne muscular dystrophy
    • Zneimer S.M., Schneider N.R., Richards C.S. In situ hybridization shows direct evidence of skewed X inactivation in one of monozygotic twin females manifesting Duchenne muscular dystrophy. Am J Med Genet 1993, 45(5):601-605.
    • (1993) Am J Med Genet , vol.45 , Issue.5 , pp. 601-605
    • Zneimer, S.M.1    Schneider, N.R.2    Richards, C.S.3
  • 282
    • 18144383891 scopus 로고    scopus 로고
    • LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype
    • Schwartz M., Hertz J.M., Sveen M.L., Vissing J. LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype. Neurology 2005, 64(9):1635-1637.
    • (2005) Neurology , vol.64 , Issue.9 , pp. 1635-1637
    • Schwartz, M.1    Hertz, J.M.2    Sveen, M.L.3    Vissing, J.4
  • 284
    • 0033927867 scopus 로고    scopus 로고
    • Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
    • Raffaele Di Barletta M., Ricci E., Galluzzi G., Tonali P., Mora M., Morandi L., et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2000, 66(4):1407-1412.
    • (2000) Am J Hum Genet , vol.66 , Issue.4 , pp. 1407-1412
    • Raffaele Di Barletta, M.1    Ricci, E.2    Galluzzi, G.3    Tonali, P.4    Mora, M.5    Morandi, L.6
  • 285
    • 0025870790 scopus 로고
    • Immunocytochemical analysis of dystrophin in congenital muscular dystrophy
    • Arikawa E., Ishihara T., Nonaka I., Sugita H., Arahata K. Immunocytochemical analysis of dystrophin in congenital muscular dystrophy. J Neurol Sci 1991, 105(1):79-87.
    • (1991) J Neurol Sci , vol.105 , Issue.1 , pp. 79-87
    • Arikawa, E.1    Ishihara, T.2    Nonaka, I.3    Sugita, H.4    Arahata, K.5
  • 287
    • 84882856237 scopus 로고    scopus 로고
    • Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene
    • Chanprasert S., Wang J., Weng S.W., Enns G.M., Boue D.R., Wong B.L., et al. Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene. Mol Genet Metab 2013, 110(1-2):153-161.
    • (2013) Mol Genet Metab , vol.110 , Issue.1-2 , pp. 153-161
    • Chanprasert, S.1    Wang, J.2    Weng, S.W.3    Enns, G.M.4    Boue, D.R.5    Wong, B.L.6
  • 289
    • 78650786838 scopus 로고    scopus 로고
    • Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy
    • McMillan H.J., Gregas M., Darras B.T., Kang P.B. Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy. Pediatrics 2011, 127(1):e132-e136.
    • (2011) Pediatrics , vol.127 , Issue.1 , pp. e132-e136
    • McMillan, H.J.1    Gregas, M.2    Darras, B.T.3    Kang, P.B.4
  • 290
    • 0027458614 scopus 로고
    • Diagnosis of occult muscular dystrophy: importance of the "chance" finding of elevated serum aminotransferase activities
    • Morse R.P., Rosman N.P. Diagnosis of occult muscular dystrophy: importance of the "chance" finding of elevated serum aminotransferase activities. J Pediatr 1993, 122(2):254-256.
    • (1993) J Pediatr , vol.122 , Issue.2 , pp. 254-256
    • Morse, R.P.1    Rosman, N.P.2
  • 291
    • 0033165780 scopus 로고    scopus 로고
    • Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group
    • Mestroni L., Rocco C., Gregori D., Sinagra G., Di Lenarda A., Miocic S., et al. Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. Heart Muscle Disease Study Group. J Am Coll Cardiol 1999, 34(1):181-190.
    • (1999) J Am Coll Cardiol , vol.34 , Issue.1 , pp. 181-190
    • Mestroni, L.1    Rocco, C.2    Gregori, D.3    Sinagra, G.4    Di Lenarda, A.5    Miocic, S.6
  • 292
  • 293
    • 16944366521 scopus 로고    scopus 로고
    • The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies
    • D'Adamo P., Fassone L., Gedeon A., Janssen E.A., Bione S., Bolhuis P.A., et al. The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet 1997, 61(4):862-867.
    • (1997) Am J Hum Genet , vol.61 , Issue.4 , pp. 862-867
    • D'Adamo, P.1    Fassone, L.2    Gedeon, A.3    Janssen, E.A.4    Bione, S.5    Bolhuis, P.A.6
  • 294
    • 46149090364 scopus 로고    scopus 로고
    • Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review
    • Yen T.Y., Hwu W.L., Chien Y.H., Wu M.H., Lin M.T., Tsao L.Y., et al. Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review. Eur J Pediatr 2008, 167(8):941-944.
    • (2008) Eur J Pediatr , vol.167 , Issue.8 , pp. 941-944
    • Yen, T.Y.1    Hwu, W.L.2    Chien, Y.H.3    Wu, M.H.4    Lin, M.T.5    Tsao, L.Y.6
  • 295
    • 84860735272 scopus 로고
    • Dystrophinopathies.
    • 2000 Sep 5 [Updated 2011 Nov 23]. In: Pagon RA, Adam MP, Bird TD, et al., editors. Seattle (WA): University of Washington, Seattle
    • Darras BT, Miller DT, Urion DK. Dystrophinopathies. 2000 Sep 5 [Updated 2011 Nov 23]. In: Pagon RA, Adam MP, Bird TD, et al., editors. GeneReviews™ [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2013. Available from: <>. http://www.ncbi.nlm.nih.gov/books/NBK1119/.
    • (1993) GeneReviews™ [Internet].
    • Darras, B.T.1    Miller, D.T.2    Urion, D.K.3
  • 296
    • 0024850505 scopus 로고
    • Serum enzymes in disease of skeletal muscle
    • Rosalki S.B. Serum enzymes in disease of skeletal muscle. Clin Lab Med 1989, 9(4):767-781.
    • (1989) Clin Lab Med , vol.9 , Issue.4 , pp. 767-781
    • Rosalki, S.B.1
  • 297
    • 0025801496 scopus 로고
    • Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy
    • Zatz M., Rapaport D., Vainzof M., Passos-Bueno M.R., Bortolini E.R., Pavanello Rde C., et al. Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy. J Neurol Sci 1991, 102(2):190-196.
    • (1991) J Neurol Sci , vol.102 , Issue.2 , pp. 190-196
    • Zatz, M.1    Rapaport, D.2    Vainzof, M.3    Passos-Bueno, M.R.4    Bortolini, E.R.5    Pavanello Rde, C.6
  • 298
    • 0018392780 scopus 로고
    • Early myocardial disease and cramping myalgia in Becker-type muscular dystrophy: a kindred
    • Kuhn E., Fiehn W., Schroder J.M., Assmus H., Wagner A. Early myocardial disease and cramping myalgia in Becker-type muscular dystrophy: a kindred. Neurology 1979, 29(8):1144-1149.
    • (1979) Neurology , vol.29 , Issue.8 , pp. 1144-1149
    • Kuhn, E.1    Fiehn, W.2    Schroder, J.M.3    Assmus, H.4    Wagner, A.5
  • 299
    • 0000906334 scopus 로고
    • Serum enzymes in muscular dystrophy and certain other muscular and neuromuscular diseases. I. Serum glutamic oxalacetic transaminase
    • Pearson C.M. Serum enzymes in muscular dystrophy and certain other muscular and neuromuscular diseases. I. Serum glutamic oxalacetic transaminase. N Engl J Med 1957, 256:1069-1075.
    • (1957) N Engl J Med , vol.256 , pp. 1069-1075
    • Pearson, C.M.1
  • 300
    • 16044373942 scopus 로고
    • Diagnostic and prognostic significance of serum enzymes. I. Muscular dystrophy
    • Fowler W.M., Pearson C.M. Diagnostic and prognostic significance of serum enzymes. I. Muscular dystrophy. Arch Phys Med 1964, 45:117-124.
    • (1964) Arch Phys Med , vol.45 , pp. 117-124
    • Fowler, W.M.1    Pearson, C.M.2
  • 301
    • 0015935012 scopus 로고
    • Serum enzyme alterations in neuromuscular disorders
    • Munsat T.L., Baloh R., Pearson C.M., Fowler W. Serum enzyme alterations in neuromuscular disorders. JAMA 1973, 226(13):1536-1543.
    • (1973) JAMA , vol.226 , Issue.13 , pp. 1536-1543
    • Munsat, T.L.1    Baloh, R.2    Pearson, C.M.3    Fowler, W.4
  • 302
    • 0022297997 scopus 로고
    • Clinical investigation in Duchenne dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection
    • Griggs R.C., Mendell J.R., Brooke M.H., Fenichel G.M., Miller J.P., Province M., et al. Clinical investigation in Duchenne dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection. Muscle Nerve 1985, 8(1):60-67.
    • (1985) Muscle Nerve , vol.8 , Issue.1 , pp. 60-67
    • Griggs, R.C.1    Mendell, J.R.2    Brooke, M.H.3    Fenichel, G.M.4    Miller, J.P.5    Province, M.6
  • 303
    • 0014056139 scopus 로고
    • Creatin kinase in human tissues
    • Dawson D.M., Fine I.H. Creatin kinase in human tissues. Arch Neurol 1967, 16(2):175-180.
    • (1967) Arch Neurol , vol.16 , Issue.2 , pp. 175-180
    • Dawson, D.M.1    Fine, I.H.2
  • 304
    • 0014504295 scopus 로고
    • Creatine phosphokinase isozymes in muscles. Human fetus and patients
    • Goto I., Nagamine M., Katsuki S. Creatine phosphokinase isozymes in muscles. Human fetus and patients. Arch Neurol 1969, 20(4):422-429.
    • (1969) Arch Neurol , vol.20 , Issue.4 , pp. 422-429
    • Goto, I.1    Nagamine, M.2    Katsuki, S.3
  • 305
    • 0017166069 scopus 로고
    • Creatine kinase isoenzymes in neuromuscular diseases
    • Somer H., Dubowitz V., Donner M. Creatine kinase isoenzymes in neuromuscular diseases. J Neurol Sci 1976, 29(2-4):129-136.
    • (1976) J Neurol Sci , vol.29 , Issue.2-4 , pp. 129-136
    • Somer, H.1    Dubowitz, V.2    Donner, M.3
  • 306
    • 0015756156 scopus 로고
    • A serum isozyme study in muscular dystrophy. Particular reference to creatine kinase, aspartate aminotransferase, and lactic acid dehydrogenase isozymes
    • Somer H., Donner M., Murros J., Konttinen A. A serum isozyme study in muscular dystrophy. Particular reference to creatine kinase, aspartate aminotransferase, and lactic acid dehydrogenase isozymes. Arch Neurol 1973, 29(5):343-345.
    • (1973) Arch Neurol , vol.29 , Issue.5 , pp. 343-345
    • Somer, H.1    Donner, M.2    Murros, J.3    Konttinen, A.4
  • 307
    • 0018128563 scopus 로고
    • Creatine kinase isoenzyme patterns in Duchenne muscular dystrophy
    • Goedde H.W., Christ I., Benkmann H.G., Beckmann R., Lang H. Creatine kinase isoenzyme patterns in Duchenne muscular dystrophy. Clin Genet 1978, 14(5):257-260.
    • (1978) Clin Genet , vol.14 , Issue.5 , pp. 257-260
    • Goedde, H.W.1    Christ, I.2    Benkmann, H.G.3    Beckmann, R.4    Lang, H.5
  • 309
    • 0018169073 scopus 로고
    • Serum creatine kinase isoenzymes in progressive muscular dystrophy
    • Tzvetanova E. Serum creatine kinase isoenzymes in progressive muscular dystrophy. Enzyme 1978, 23(4):238-245.
    • (1978) Enzyme , vol.23 , Issue.4 , pp. 238-245
    • Tzvetanova, E.1
  • 310
    • 0026078578 scopus 로고
    • Abnormalities in serum enzymes in skeletal muscle diseases
    • Wolf P.L. Abnormalities in serum enzymes in skeletal muscle diseases. Am J Clin Pathol 1991, 95(3):293-296.
    • (1991) Am J Clin Pathol , vol.95 , Issue.3 , pp. 293-296
    • Wolf, P.L.1
  • 311
    • 0017845324 scopus 로고
    • Myoglobinemia in children with progressive muscular dystrophy
    • Ando T., Shimizu T., Kato T., Ohsawa M., Fukuyama Y. Myoglobinemia in children with progressive muscular dystrophy. Clin Chim Acta 1978, 85(1):17-22.
    • (1978) Clin Chim Acta , vol.85 , Issue.1 , pp. 17-22
    • Ando, T.1    Shimizu, T.2    Kato, T.3    Ohsawa, M.4    Fukuyama, Y.5
  • 313
    • 0021848735 scopus 로고
    • Activity, creatine kinase, and myoglobin in Duchenne muscular dystrophy: a clue to etiology?
    • Florence J.M., Fox P.T., Planer G.J., Brooke M.H. Activity, creatine kinase, and myoglobin in Duchenne muscular dystrophy: a clue to etiology?. Neurology 1985, 35(5):758-761.
    • (1985) Neurology , vol.35 , Issue.5 , pp. 758-761
    • Florence, J.M.1    Fox, P.T.2    Planer, G.J.3    Brooke, M.H.4
  • 314
    • 0021142632 scopus 로고
    • Monoclonal antibody analysis of mononuclear cells in myopathies. II: Phenotypes of autoinvasive cells in polymyositis and inclusion body myositis
    • Engel A.G., Arahata K. Monoclonal antibody analysis of mononuclear cells in myopathies. II: Phenotypes of autoinvasive cells in polymyositis and inclusion body myositis. Ann Neurol 1984, 16(2):209-215.
    • (1984) Ann Neurol , vol.16 , Issue.2 , pp. 209-215
    • Engel, A.G.1    Arahata, K.2
  • 315
    • 0014127574 scopus 로고
    • Change in fiber size in Duchenne muscular dystrophy
    • Bell C.D., Conen P.E. Change in fiber size in Duchenne muscular dystrophy. Neurology 1967, 17(9):902-913.
    • (1967) Neurology , vol.17 , Issue.9 , pp. 902-913
    • Bell, C.D.1    Conen, P.E.2
  • 317
    • 0027461720 scopus 로고
    • Localization and quantitation of the chromosome 6-encoded dystrophin-related protein in normal and pathological human muscle
    • Karpati G., Carpenter S., Morris G.E., Davies K.E., Guerin C., Holland P. Localization and quantitation of the chromosome 6-encoded dystrophin-related protein in normal and pathological human muscle. J Neuropathol Exp Neurol 1993, 52(2):119-128.
    • (1993) J Neuropathol Exp Neurol , vol.52 , Issue.2 , pp. 119-128
    • Karpati, G.1    Carpenter, S.2    Morris, G.E.3    Davies, K.E.4    Guerin, C.5    Holland, P.6
  • 318
    • 0022359047 scopus 로고
    • Histochemical fibre typing and ultrastructure of the small fibres in Duchenne muscular dystrophy
    • Watkins S.C., Cullen M.J. Histochemical fibre typing and ultrastructure of the small fibres in Duchenne muscular dystrophy. Neuropathol Appl Neurobiol 1985, 11(6):447-460.
    • (1985) Neuropathol Appl Neurobiol , vol.11 , Issue.6 , pp. 447-460
    • Watkins, S.C.1    Cullen, M.J.2
  • 320
    • 0023902940 scopus 로고
    • Correlative study of the incidence of opaque, necrotic and regenerative fibers in Duchenne dystrophy
    • Uchino M., Araki S., Miike T. Correlative study of the incidence of opaque, necrotic and regenerative fibers in Duchenne dystrophy. Acta Neuropathol 1988, 75(3):308-312.
    • (1988) Acta Neuropathol , vol.75 , Issue.3 , pp. 308-312
    • Uchino, M.1    Araki, S.2    Miike, T.3
  • 321
    • 0017797971 scopus 로고
    • Intracellular calcium accumulation in Duchenne dystrophy and other myopathies: a study of 567,000 muscle fibers in 114 biopsies
    • Bodensteiner J.B., Engel A.G. Intracellular calcium accumulation in Duchenne dystrophy and other myopathies: a study of 567,000 muscle fibers in 114 biopsies. Neurology 1978, 28(5):439-446.
    • (1978) Neurology , vol.28 , Issue.5 , pp. 439-446
    • Bodensteiner, J.B.1    Engel, A.G.2
  • 322
    • 0019186448 scopus 로고
    • Muscle pathology of Duchenne dystrophy, with particular reference to "opaque fibers"
    • Nonaka I., Sugita H. Muscle pathology of Duchenne dystrophy, with particular reference to "opaque fibers". Adv Neurol Sci 1980, 24:718.
    • (1980) Adv Neurol Sci , vol.24 , pp. 718
    • Nonaka, I.1    Sugita, H.2
  • 323
    • 0021741563 scopus 로고
    • Muscle fiber degeneration and necrosis in muscular dystrophy and other muscle diseases: cytochemical and immunocytochemical data
    • Cornelio F., Dones I. Muscle fiber degeneration and necrosis in muscular dystrophy and other muscle diseases: cytochemical and immunocytochemical data. Ann Neurol 1984, 16(6):694-701.
    • (1984) Ann Neurol , vol.16 , Issue.6 , pp. 694-701
    • Cornelio, F.1    Dones, I.2
  • 324
    • 84871298102 scopus 로고    scopus 로고
    • Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies
    • Momma K., Noguchi S., Malicdan M.C., Hayashi Y.K., Minami N., Kamakura K., et al. Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies. PLOS ONE 2012, 7(12):e52002.
    • (2012) PLOS ONE , vol.7 , Issue.12 , pp. e52002
    • Momma, K.1    Noguchi, S.2    Malicdan, M.C.3    Hayashi, Y.K.4    Minami, N.5    Kamakura, K.6
  • 325
    • 0021176654 scopus 로고
    • Monoclonal antibody analysis of mononuclear cells in myopathies. I: Quantitation of subsets according to diagnosis and sites of accumulation and demonstration and counts of muscle fibers invaded by T cells
    • Arahata K., Engel A.G. Monoclonal antibody analysis of mononuclear cells in myopathies. I: Quantitation of subsets according to diagnosis and sites of accumulation and demonstration and counts of muscle fibers invaded by T cells. Ann Neurol 1984, 16(2):193-208.
    • (1984) Ann Neurol , vol.16 , Issue.2 , pp. 193-208
    • Arahata, K.1    Engel, A.G.2
  • 327
    • 0016591825 scopus 로고
    • Duchenne dystrophy: electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber
    • Mokri B., Engel A.G. Duchenne dystrophy: electron microscopic findings pointing to a basic or early abnormality in the plasma membrane of the muscle fiber. Neurology 1975, 25(12):1111-1120.
    • (1975) Neurology , vol.25 , Issue.12 , pp. 1111-1120
    • Mokri, B.1    Engel, A.G.2
  • 328
    • 0018351620 scopus 로고
    • Duchenne muscular dystrophy: plasma membrane loss initiates muscle cell necrosis unless it is repaired
    • Carpenter S., Karpati G. Duchenne muscular dystrophy: plasma membrane loss initiates muscle cell necrosis unless it is repaired. Brain 1979, 102(1):147-161.
    • (1979) Brain , vol.102 , Issue.1 , pp. 147-161
    • Carpenter, S.1    Karpati, G.2
  • 329
    • 0026063851 scopus 로고
    • Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin
    • Bulman D.E., Murphy E.G., Zubrzycka-Gaarn E.E., Worton R.G., Ray P.N. Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin. Am J Hum Genet 1991, 48(2):295-304.
    • (1991) Am J Hum Genet , vol.48 , Issue.2 , pp. 295-304
    • Bulman, D.E.1    Murphy, E.G.2    Zubrzycka-Gaarn, E.E.3    Worton, R.G.4    Ray, P.N.5
  • 330
    • 0025822392 scopus 로고
    • Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and Western blot
    • Voit T., Stuettgen P., Cremer M., Goebel H.H. Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and Western blot. Neuropediatrics 1991, 22(3):152-162.
    • (1991) Neuropediatrics , vol.22 , Issue.3 , pp. 152-162
    • Voit, T.1    Stuettgen, P.2    Cremer, M.3    Goebel, H.H.4
  • 331
    • 0026948981 scopus 로고
    • Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient
    • Winnard A.V., Jia-Hsu Y., Gibbs R.A., Mendell J.R., Burghes A.H. Identification of a 2 base pair nonsense mutation causing a cryptic splice site in a DMD patient. Hum Mol Genet 1992, 1(8):645-646.
    • (1992) Hum Mol Genet , vol.1 , Issue.8 , pp. 645-646
    • Winnard, A.V.1    Jia-Hsu, Y.2    Gibbs, R.A.3    Mendell, J.R.4    Burghes, A.H.5
  • 332
    • 0026637764 scopus 로고
    • Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers
    • Klein C.J., Coovert D.D., Bulman D.E., Ray P.N., Mendell J.R., Burghes A.H. Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am J Hum Genet 1992, 50(5):950-959.
    • (1992) Am J Hum Genet , vol.50 , Issue.5 , pp. 950-959
    • Klein, C.J.1    Coovert, D.D.2    Bulman, D.E.3    Ray, P.N.4    Mendell, J.R.5    Burghes, A.H.6
  • 333
    • 0025316225 scopus 로고
    • Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy
    • Nicholson L.V., Johnson M.A., Gardner-Medwin D., Bhattacharya S., Harris J.B. Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol 1990, 80(3):239-250.
    • (1990) Acta Neuropathol , vol.80 , Issue.3 , pp. 239-250
    • Nicholson, L.V.1    Johnson, M.A.2    Gardner-Medwin, D.3    Bhattacharya, S.4    Harris, J.B.5
  • 334
    • 0027365063 scopus 로고
    • Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy
    • Nguyen T.M., Morris G.E. Use of epitope libraries to identify exon-specific monoclonal antibodies for characterization of altered dystrophins in muscular dystrophy. Am J Hum Genet 1993, 52(6):1057-1066.
    • (1993) Am J Hum Genet , vol.52 , Issue.6 , pp. 1057-1066
    • Nguyen, T.M.1    Morris, G.E.2
  • 335
    • 0344273880 scopus 로고
    • Dystrophin deficiency examined by combined PCR, immunoblot and immunostain analysis [abstr]
    • Yamamoto H., Brengman J.M., McCormick D.J., Nishino H., Engel A.G. Dystrophin deficiency examined by combined PCR, immunoblot and immunostain analysis [abstr]. Neurology 1993, 43(Suppl.):A293-A294.
    • (1993) Neurology , vol.43 , pp. A293-A294
    • Yamamoto, H.1    Brengman, J.M.2    McCormick, D.J.3    Nishino, H.4    Engel, A.G.5
  • 336
    • 0027203989 scopus 로고
    • Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups
    • Nicholson L.V., Johnson M.A., Bushby K.M., Gardner-Medwin D., Curtis A., Ginjaar I.B., et al. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups. J Med Genet 1993, 30(9):728-736.
    • (1993) J Med Genet , vol.30 , Issue.9 , pp. 728-736
    • Nicholson, L.V.1    Johnson, M.A.2    Bushby, K.M.3    Gardner-Medwin, D.4    Curtis, A.5    Ginjaar, I.B.6
  • 337
    • 0026654118 scopus 로고
    • Molecular genetic and immunological analysis of dystrophin of a young patient with X-linked muscular dystrophy
    • Ikeya K., Saito K., Hayashi K., Tanaka H., Hagiwara Y., Yoshida M., et al. Molecular genetic and immunological analysis of dystrophin of a young patient with X-linked muscular dystrophy. Am J Med Genet 1992, 43(3):580-587.
    • (1992) Am J Med Genet , vol.43 , Issue.3 , pp. 580-587
    • Ikeya, K.1    Saito, K.2    Hayashi, K.3    Tanaka, H.4    Hagiwara, Y.5    Yoshida, M.6
  • 338
    • 0027329178 scopus 로고
    • The use of monoclonal antibodies in diagnostic tests for Becker and Duchenne muscular dystrophy
    • Gold R., Kress W., Reichmann H., Muller C.R. The use of monoclonal antibodies in diagnostic tests for Becker and Duchenne muscular dystrophy. J Neurol 1993, 240(1):21-24.
    • (1993) J Neurol , vol.240 , Issue.1 , pp. 21-24
    • Gold, R.1    Kress, W.2    Reichmann, H.3    Muller, C.R.4
  • 339
    • 33645746833 scopus 로고    scopus 로고
    • Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy
    • Hoogerwaard E.M., Ginjaar I.B., Bakker E., de Visser M. Dystrophin analysis in carriers of Duchenne and Becker muscular dystrophy. Neurology 2005, 65(12):1984-1986.
    • (2005) Neurology , vol.65 , Issue.12 , pp. 1984-1986
    • Hoogerwaard, E.M.1    Ginjaar, I.B.2    Bakker, E.3    de Visser, M.4
  • 340
    • 0024209881 scopus 로고
    • Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy
    • Bonilla E., Schmidt B., Samitt C.E., Miranda A.F., Hays A.P., de Oliveira A.B., et al. Normal and dystrophin-deficient muscle fibers in carriers of the gene for Duchenne muscular dystrophy. Am J Pathol 1988, 133(3):440-445.
    • (1988) Am J Pathol , vol.133 , Issue.3 , pp. 440-445
    • Bonilla, E.1    Schmidt, B.2    Samitt, C.E.3    Miranda, A.F.4    Hays, A.P.5    de Oliveira, A.B.6
  • 341
    • 0024537135 scopus 로고
    • Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy
    • Arahata K., Ishihara T., Kamakura K., Tsukahara T., Ishiura S., Baba C., et al. Mosaic expression of dystrophin in symptomatic carriers of Duchenne's muscular dystrophy. N Engl J Med 1989, 320(3):138-142.
    • (1989) N Engl J Med , vol.320 , Issue.3 , pp. 138-142
    • Arahata, K.1    Ishihara, T.2    Kamakura, K.3    Tsukahara, T.4    Ishiura, S.5    Baba, C.6
  • 342
    • 0025018325 scopus 로고
    • Dystrophin analysis in Duchenne and Becker muscular dystrophy carriers: correlation with intracellular calcium and albumin
    • Morandi L., Mora M., Gussoni E., Tedeschi S., Cornelio F. Dystrophin analysis in Duchenne and Becker muscular dystrophy carriers: correlation with intracellular calcium and albumin. Ann Neurol 1990, 28(5):674-679.
    • (1990) Ann Neurol , vol.28 , Issue.5 , pp. 674-679
    • Morandi, L.1    Mora, M.2    Gussoni, E.3    Tedeschi, S.4    Cornelio, F.5
  • 343
    • 0025933067 scopus 로고
    • Dystrophin immunofluorescence pattern in manifesting and asymptomatic carriers of Duchenne's and Becker muscular dystrophies of different ages
    • Vainzof M., Pavanello R.C., Pavanello I., Tsanaclis A.M., Levy J.A., Passos-Bueno M.R., et al. Dystrophin immunofluorescence pattern in manifesting and asymptomatic carriers of Duchenne's and Becker muscular dystrophies of different ages. Neuromuscul Disord 1991, 1(3):177-183.
    • (1991) Neuromuscul Disord , vol.1 , Issue.3 , pp. 177-183
    • Vainzof, M.1    Pavanello, R.C.2    Pavanello, I.3    Tsanaclis, A.M.4    Levy, J.A.5    Passos-Bueno, M.R.6
  • 344
    • 0026690317 scopus 로고
    • Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier
    • Muntoni F., Mateddu A., Marrosu M.G., Cau M., Congiu R., Melis M.A., et al. Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier. Clin Genet 1992, 42(1):35-38.
    • (1992) Clin Genet , vol.42 , Issue.1 , pp. 35-38
    • Muntoni, F.1    Mateddu, A.2    Marrosu, M.G.3    Cau, M.4    Congiu, R.5    Melis, M.A.6
  • 345
    • 84880922109 scopus 로고    scopus 로고
    • Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age
    • Mercier S., Toutain A., Toussaint A., Raynaud M., de Barace C., Marcorelles P., et al. Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. Eur J Hum Genet: EJHG 2013, 21(8):855-863.
    • (2013) Eur J Hum Genet: EJHG , vol.21 , Issue.8 , pp. 855-863
    • Mercier, S.1    Toutain, A.2    Toussaint, A.3    Raynaud, M.4    de Barace, C.5    Marcorelles, P.6
  • 347
    • 0027472312 scopus 로고
    • Single-blind study of dystrophin staining in carriers of Duchenne muscular dystrophy
    • Bernier F.P., Greenberg C.R., Halliday W.C., Wrogemann K. Single-blind study of dystrophin staining in carriers of Duchenne muscular dystrophy. Can J Neurol Sci 1993, 20(1):44-47.
    • (1993) Can J Neurol Sci , vol.20 , Issue.1 , pp. 44-47
    • Bernier, F.P.1    Greenberg, C.R.2    Halliday, W.C.3    Wrogemann, K.4
  • 348
    • 0027249415 scopus 로고
    • Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients
    • Nicholson L.V., Johnson M.A., Bushby K.M., Gardner-Medwin D., Curtis A., Ginjaar I.B., et al. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients. J Med Genet 1993, 30(9):737-744.
    • (1993) J Med Genet , vol.30 , Issue.9 , pp. 737-744
    • Nicholson, L.V.1    Johnson, M.A.2    Bushby, K.M.3    Gardner-Medwin, D.4    Curtis, A.5    Ginjaar, I.B.6
  • 349
    • 0026002798 scopus 로고
    • The frequency of patients with dystrophin abnormalities in a limb-girdle patient population
    • Arikawa E., Hoffman E.P., Kaido M., Nonaka I., Sugita H., Arahata K. The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. Neurology 1991, 41(9):1491-1496.
    • (1991) Neurology , vol.41 , Issue.9 , pp. 1491-1496
    • Arikawa, E.1    Hoffman, E.P.2    Kaido, M.3    Nonaka, I.4    Sugita, H.5    Arahata, K.6
  • 350
    • 0026671129 scopus 로고
    • Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions
    • Beggs A.H., Hoffman E.P., Kunkel L.M. Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions. Am J Med Genet 1992, 44(3):378-381.
    • (1992) Am J Med Genet , vol.44 , Issue.3 , pp. 378-381
    • Beggs, A.H.1    Hoffman, E.P.2    Kunkel, L.M.3
  • 351
    • 0027186053 scopus 로고
    • Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity
    • Cox G.A., Cole N.M., Matsumura K., Phelps S.F., Hauschka S.D., Campbell K.P., et al. Overexpression of dystrophin in transgenic mdx mice eliminates dystrophic symptoms without toxicity. Nature 1993, 364:673-675.
    • (1993) Nature , vol.364 , pp. 673-675
    • Cox, G.A.1    Cole, N.M.2    Matsumura, K.3    Phelps, S.F.4    Hauschka, S.D.5    Campbell, K.P.6
  • 352
    • 0027268421 scopus 로고
    • Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis
    • Nicholson L.V., Johnson M.A., Bushby K.M., Gardner-Medwin D., Curtis A., Ginjaar I.B., et al. Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 3. Differential diagnosis and prognosis. J Med Genet 1993, 30(9):745-751.
    • (1993) J Med Genet , vol.30 , Issue.9 , pp. 745-751
    • Nicholson, L.V.1    Johnson, M.A.2    Bushby, K.M.3    Gardner-Medwin, D.4    Curtis, A.5    Ginjaar, I.B.6
  • 353
    • 42949155147 scopus 로고    scopus 로고
    • Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule
    • Kesari A., Pirra L.N., Bremadesam L., McIntyre O., Gordon E., Dubrovsky A.L., et al. Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule. Hum Mutat 2008, 29(5):728-737.
    • (2008) Hum Mutat , vol.29 , Issue.5 , pp. 728-737
    • Kesari, A.1    Pirra, L.N.2    Bremadesam, L.3    McIntyre, O.4    Gordon, E.5    Dubrovsky, A.L.6
  • 354
    • 0035964228 scopus 로고    scopus 로고
    • Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
    • Mendell J.R., Buzin C.H., Feng J., Yan J., Serrano C., Sangani D.S., et al. Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 2001, 57(4):645-650.
    • (2001) Neurology , vol.57 , Issue.4 , pp. 645-650
    • Mendell, J.R.1    Buzin, C.H.2    Feng, J.3    Yan, J.4    Serrano, C.5    Sangani, D.S.6
  • 355
    • 20344366588 scopus 로고    scopus 로고
    • Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)
    • Gatta V., Scarciolla O., Gaspari A.R., Palka C., De Angelis M.V., Di Muzio A., et al. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet 2005, 117(1):92-98.
    • (2005) Hum Genet , vol.117 , Issue.1 , pp. 92-98
    • Gatta, V.1    Scarciolla, O.2    Gaspari, A.R.3    Palka, C.4    De Angelis, M.V.5    Di Muzio, A.6
  • 356
    • 58149284049 scopus 로고    scopus 로고
    • A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
    • Bovolenta M., Neri M., Fini S., Fabris M., Trabanelli C., Venturoli A., et al. A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics 2008, 9:572.
    • (2008) BMC Genomics , vol.9 , pp. 572
    • Bovolenta, M.1    Neri, M.2    Fini, S.3    Fabris, M.4    Trabanelli, C.5    Venturoli, A.6
  • 358
    • 51549110163 scopus 로고    scopus 로고
    • Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
    • del Gaudio D., Yang Y., Boggs B.A., Schmitt E.S., Lee J.A., Sahoo T., et al. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat 2008, 29(9):1100-1107.
    • (2008) Hum Mutat , vol.29 , Issue.9 , pp. 1100-1107
    • del Gaudio, D.1    Yang, Y.2    Boggs, B.A.3    Schmitt, E.S.4    Lee, J.A.5    Sahoo, T.6
  • 359
    • 0026720845 scopus 로고
    • Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study
    • Multicenter Study Group Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction. A multicenter study. JAMA 1992, 267(19):2609-2615.
    • (1992) JAMA , vol.267 , Issue.19 , pp. 2609-2615
  • 360
    • 0023921593 scopus 로고
    • Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA
    • Darras B.T., Koenig M., Kunkel L.M., Francke U. Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. Am J Med Genet 1988, 29(3):713-726.
    • (1988) Am J Med Genet , vol.29 , Issue.3 , pp. 713-726
    • Darras, B.T.1    Koenig, M.2    Kunkel, L.M.3    Francke, U.4
  • 361
    • 77956228891 scopus 로고    scopus 로고
    • Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing
    • Bonnal R.J., Severgnini M., Castaldi A., Bordoni R., Iacono M., Trimarco A., et al. Reliable resequencing of the human dystrophin locus by universal long polymerase chain reaction and massive pyrosequencing. Anal Biochem 2010, 406(2):176-184.
    • (2010) Anal Biochem , vol.406 , Issue.2 , pp. 176-184
    • Bonnal, R.J.1    Severgnini, M.2    Castaldi, A.3    Bordoni, R.4    Iacono, M.5    Trimarco, A.6
  • 363
    • 33746766278 scopus 로고    scopus 로고
    • Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule
    • Aartsma-Rus A., Van Deutekom J.C., Fokkema I.F., Van Ommen G.J., Den Dunnen J.T. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve 2006, 34(2):135-144.
    • (2006) Muscle Nerve , vol.34 , Issue.2 , pp. 135-144
    • Aartsma-Rus, A.1    Van Deutekom, J.C.2    Fokkema, I.F.3    Van Ommen, G.J.4    Den Dunnen, J.T.5
  • 364
    • 0023735839 scopus 로고
    • Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene
    • Darras B.T., Francke U. Myopathy in complex glycerol kinase deficiency patients is due to 3' deletions of the dystrophin gene. Am J Hum Genet 1988, 43(2):126-130.
    • (1988) Am J Hum Genet , vol.43 , Issue.2 , pp. 126-130
    • Darras, B.T.1    Francke, U.2
  • 365
    • 0038769897 scopus 로고    scopus 로고
    • Molecular diagnosis of Duchenne/Becker muscular dystrophy by polymerase chain reaction and microsatellite analysis
    • Kim U.K., Chae J.J., Lee S.H., Lee C.C., Namkoong Y. Molecular diagnosis of Duchenne/Becker muscular dystrophy by polymerase chain reaction and microsatellite analysis. Mol Cells 2002, 13(3):385-388.
    • (2002) Mol Cells , vol.13 , Issue.3 , pp. 385-388
    • Kim, U.K.1    Chae, J.J.2    Lee, S.H.3    Lee, C.C.4    Namkoong, Y.5
  • 366
    • 0025161205 scopus 로고
    • Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene
    • Abbs S., Roberts R.G., Mathew C.G., Bentley D.R., Bobrow M. Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene. Genomics 1990, 7(4):602-606.
    • (1990) Genomics , vol.7 , Issue.4 , pp. 602-606
    • Abbs, S.1    Roberts, R.G.2    Mathew, C.G.3    Bentley, D.R.4    Bobrow, M.5
  • 367
    • 5444266249 scopus 로고    scopus 로고
    • Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene
    • Ferreiro V., Szijan I., Giliberto F. Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene. Mol Diagn 2004, 8(2):115-121.
    • (2004) Mol Diagn , vol.8 , Issue.2 , pp. 115-121
    • Ferreiro, V.1    Szijan, I.2    Giliberto, F.3
  • 368
    • 0030846611 scopus 로고    scopus 로고
    • The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol
    • van Essen A.J., Kneppers A.L., van der Hout A.H., Scheffer H., Ginjaar I.B., ten Kate L.P., et al. The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol. J Med Genet 1997, 34(10):805-812.
    • (1997) J Med Genet , vol.34 , Issue.10 , pp. 805-812
    • van Essen, A.J.1    Kneppers, A.L.2    van der Hout, A.H.3    Scheffer, H.4    Ginjaar, I.B.5    ten Kate, L.P.6
  • 369
    • 0026580188 scopus 로고
    • Birth and population prevalence of Duchenne muscular dystrophy in The Netherlands
    • van Essen A.J., Busch H.F., te Meerman G.J., ten Kate L.P. Birth and population prevalence of Duchenne muscular dystrophy in The Netherlands. Hum Genet 1992, 88(3):258-266.
    • (1992) Hum Genet , vol.88 , Issue.3 , pp. 258-266
    • van Essen, A.J.1    Busch, H.F.2    te Meerman, G.J.3    ten Kate, L.P.4
  • 371
    • 77954133848 scopus 로고    scopus 로고
    • Molecular prenatal diagnosis: the impact of modern technologies
    • Raymond F.L., Whittaker J., Jenkins L., Lench N., Chitty L.S. Molecular prenatal diagnosis: the impact of modern technologies. Prenat Diagn 2010, 30(7):674-681.
    • (2010) Prenat Diagn , vol.30 , Issue.7 , pp. 674-681
    • Raymond, F.L.1    Whittaker, J.2    Jenkins, L.3    Lench, N.4    Chitty, L.S.5


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