메뉴 건너뛰기




Volumn 2, Issue 12, 2003, Pages 731-740

Dystrophin and mutations: One gene, several proteins, multiple phenotypes

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN; ISOPROTEIN;

EID: 0344420060     PISSN: 14744422     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1474-4422(03)00585-4     Document Type: Review
Times cited : (861)

References (149)
  • 1
    • 0024314433 scopus 로고
    • Molecular genetics of Duchenne and Becker muscular dystrophy: Emphasis on improved diagnosis
    • Kunkel L.M., Beggs A.H., Hoffman E.P. Molecular genetics of Duchenne and Becker muscular dystrophy: emphasis on improved diagnosis. Clin Chem. 35:(suppl 7):1989;B21-B24.
    • (1989) Clin Chem , vol.35 , Issue.SUPPL. 7
    • Kunkel, L.M.1    Beggs, A.H.2    Hoffman, E.P.3
  • 2
    • 0024370782 scopus 로고
    • Dystrophin: The gene and its product
    • Mandel J.L. Dystrophin: the gene and its product. Nature. 339:1989;584-586.
    • (1989) Nature , vol.339 , pp. 584-586
    • Mandel, J.L.1
  • 3
    • 0029283750 scopus 로고
    • The dystrophin gene and its product: A view
    • Manole E. The dystrophin gene and its product: a view. Rom J Neurol Psychiatry. 33:1995;109-119.
    • (1995) Rom J Neurol Psychiatry , vol.33 , pp. 109-119
    • Manole, E.1
  • 4
    • 0027760879 scopus 로고
    • Expression of the transcripts initiated in the 62nd intron of the dystrophin gene
    • Lambert M., Chafey P., Hugnot J.P., et al. Expression of the transcripts initiated in the 62nd intron of the dystrophin gene. Neuromuscul Disord. 3:1993;519-524.
    • (1993) Neuromuscul Disord , vol.3 , pp. 519-524
    • Lambert, M.1    Chafey, P.2    Hugnot, J.P.3
  • 5
    • 0035332670 scopus 로고    scopus 로고
    • Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle
    • Sironi M., Bardoni A., Felisari G., et al. Transcriptional activation of the non-muscle, full-length dystrophin isoforms in Duchenne muscular dystrophy skeletal muscle. J Neurol Sci. 186:2001;51-57.
    • (2001) J Neurol Sci , vol.186 , pp. 51-57
    • Sironi, M.1    Bardoni, A.2    Felisari, G.3
  • 6
    • 0032742434 scopus 로고    scopus 로고
    • Expression, regulation and localisation of dystrophin isoforms in human foetal skeletal and cardiac muscle
    • Torelli S., Ferlini A., Obici L., Sewry C., Muntoni F. Expression, regulation and localisation of dystrophin isoforms in human foetal skeletal and cardiac muscle. Neuromuscul Disord. 9:1999;541-551.
    • (1999) Neuromuscul Disord , vol.9 , pp. 541-551
    • Torelli, S.1    Ferlini, A.2    Obici, L.3    Sewry, C.4    Muntoni, F.5
  • 7
    • 0026632426 scopus 로고
    • Expression and localization of dystrophin in human cardiac Purkinje fibers
    • Bies R.D., Friedman D., Roberts R., Perryman M.B., Caskey C.T. Expression and localization of dystrophin in human cardiac Purkinje fibers. Circulation. 86:1992;147-153.
    • (1992) Circulation , vol.86 , pp. 147-153
    • Bies, R.D.1    Friedman, D.2    Roberts, R.3    Perryman, M.B.4    Caskey, C.T.5
  • 8
    • 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. 20:1992;1725-1731.
    • (1992) Nucleic Acids Res , vol.20 , 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
  • 9
    • 0024595610 scopus 로고
    • Duchenne muscular dystrophy gene product is not identical in muscle and brain
    • Nudel U., Zuk D., Einat P., et al. Duchenne muscular dystrophy gene product is not identical in muscle and brain. Nature. 337:1989;76-78.
    • (1989) Nature , vol.337 , pp. 76-78
    • Nudel, U.1    Zuk, D.2    Einat, P.3
  • 10
    • 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. 1:1992;505-510.
    • (1992) Hum Mol Genet , vol.1 , 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
  • 11
    • 0028812128 scopus 로고
    • Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with 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 with X-linked dilated cardiomyopathy. Am J Hum Genet. 56:1995;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
  • 12
    • 0027062991 scopus 로고
    • Multiple products of the Duchenne muscular dystrophy gene
    • Yaffe D., Makover A., Lederfein D., et al. Multiple products of the Duchenne muscular dystrophy gene. Symp Soc Exp Biol. 46:1992;179-188.
    • (1992) Symp Soc Exp Biol , vol.46 , pp. 179-188
    • Yaffe, D.1    Makover, A.2    Lederfein, D.3
  • 13
    • 0027936780 scopus 로고
    • Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter
    • Nishio H., Takeshima Y., Narita N., et al. Identification of a novel first exon in the human dystrophin gene and of a new promoter located more than 500 kb upstream of the nearest known promoter. J Clin Invest. 94:1994;1037-1042.
    • (1994) J Clin Invest , vol.94 , pp. 1037-1042
    • Nishio, H.1    Takeshima, Y.2    Narita, N.3
  • 14
    • 0037211541 scopus 로고    scopus 로고
    • The dystrophin lymphocyte promoter revisited: 4.5 megabase intron, or artifact?
    • Wheway J.M., Roberts R.G. The dystrophin lymphocyte promoter revisited: 4.5 megabase intron, or artifact? Neuromuscul Disord. 13:2003;17-20.
    • (2003) Neuromuscul Disord , vol.13 , pp. 17-20
    • Wheway, J.M.1    Roberts, R.G.2
  • 16
    • 0032976697 scopus 로고    scopus 로고
    • Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing
    • Surono A., Takeshima Y., Wibawa T., Ikezawa M., Nonaka I., Matsuo M. Circular dystrophin RNAs consisting of exons that were skipped by alternative splicing. Hum Mol Genet. 8:1999;493-500.
    • (1999) Hum Mol Genet , vol.8 , pp. 493-500
    • Surono, A.1    Takeshima, Y.2    Wibawa, T.3    Ikezawa, M.4    Nonaka, I.5    Matsuo, M.6
  • 17
    • 0035037179 scopus 로고    scopus 로고
    • Dystrophins and dystrobrevins
    • REVIEWS3006
    • Roberts RG. Dystrophins and dystrobrevins. Genome Biol 2001; 2: REVIEWS3006.
    • (2001) Genome Biol , vol.2
    • Roberts, R.G.1
  • 18
    • 0033814140 scopus 로고    scopus 로고
    • Molecular basis of muscular dystrophies
    • Cohn R.D., Campbell K.P. Molecular basis of muscular dystrophies. Muscle Nerve. 23:2000;1456-1471.
    • (2000) Muscle Nerve , vol.23 , pp. 1456-1471
    • Cohn, R.D.1    Campbell, K.P.2
  • 19
    • 0030909575 scopus 로고    scopus 로고
    • Muscular dystrophies and the dystrophin-glycoprotein complex
    • Straub V., Campbell K.P. Muscular dystrophies and the dystrophin-glycoprotein complex. Curr Opin Neurol. 10:1997;168-175.
    • (1997) Curr Opin Neurol , vol.10 , pp. 168-175
    • Straub, V.1    Campbell, K.P.2
  • 20
    • 0029130240 scopus 로고
    • Molecular analysis of Duchenne muscular dystrophy: Past, present, and future
    • Davies K.E., Tinsley J.M., Blake D.J. Molecular analysis of Duchenne muscular dystrophy: past, present, and future. Ann N Y Acad Sci. 758:1995;287-296.
    • (1995) Ann N Y Acad Sci , vol.758 , pp. 287-296
    • Davies, K.E.1    Tinsley, J.M.2    Blake, D.J.3
  • 22
  • 23
    • 0035190381 scopus 로고    scopus 로고
    • The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies
    • Rando T.A. The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies. Muscle Nerve. 24:2001;1575-1594.
    • (2001) Muscle Nerve , vol.24 , pp. 1575-1594
    • Rando, T.A.1
  • 24
    • 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. 338:1989;259-262.
    • (1989) Nature , vol.338 , pp. 259-262
    • Campbell, K.P.1    Kahl, S.D.2
  • 25
    • 0035450929 scopus 로고    scopus 로고
    • Molecular pathophysiology and targeted therapeutics for muscular dystrophy
    • Hoffman E.P., Dressman D. Molecular pathophysiology and targeted therapeutics for muscular dystrophy. Trends Pharmacol Sci. 22:2001;465-470.
    • (2001) Trends Pharmacol Sci , vol.22 , pp. 465-470
    • Hoffman, E.P.1    Dressman, D.2
  • 26
    • 0032246520 scopus 로고    scopus 로고
    • Role of dystrophin isoforms and associated proteins in muscular dystrophy (review)
    • Culligan K.G., Mackey A.J., Finn D.M., Maguire P.B., Ohlendieck K. Role of dystrophin isoforms and associated proteins in muscular dystrophy (review). Int J Mol Med. 2:1998;639-648.
    • (1998) Int J Mol Med , vol.2 , pp. 639-648
    • Culligan, K.G.1    Mackey, A.J.2    Finn, D.M.3    Maguire, P.B.4    Ohlendieck, K.5
  • 27
    • 0030802652 scopus 로고    scopus 로고
    • Functions of dystrophin and dystrophin associated proteins
    • Michalak M., Opas M. Functions of dystrophin and dystrophin associated proteins. Curr Opin Neurol. 10:1997;436-442.
    • (1997) Curr Opin Neurol , vol.10 , pp. 436-442
    • Michalak, M.1    Opas, M.2
  • 28
    • 0037160782 scopus 로고    scopus 로고
    • The muscular dystrophies
    • Emery A.E. The muscular dystrophies. Lancet. 359:2002;687-695.
    • (2002) Lancet , vol.359 , pp. 687-695
    • Emery, A.E.1
  • 29
    • 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. 8:1999;1875-1882.
    • (1999) Hum Mol Genet , vol.8 , pp. 1875-1882
    • Bushby, K.M.1
  • 30
    • 0036839039 scopus 로고    scopus 로고
    • Molecular pathophysiology of myofiber injury in deficiencies of the dystrophin-glycoprotein complex
    • Petrof B.J. Molecular pathophysiology of myofiber injury in deficiencies of the dystrophin-glycoprotein complex. Am J Phys Med Rehabil. 81:(suppl 11):2002;S162-S174.
    • (2002) Am J Phys Med Rehabil , vol.81 , Issue.SUPPL. 11
    • Petrof, B.J.1
  • 31
    • 0034903234 scopus 로고    scopus 로고
    • The interaction of dystrophin with beta-dystroglycan is regulated by tyrosine phosphorylation
    • Ilsley J.L., Sudol M., Winder S.J. The interaction of dystrophin with beta-dystroglycan is regulated by tyrosine phosphorylation. Cell Signal. 13:2001;625-632.
    • (2001) Cell Signal , vol.13 , pp. 625-632
    • Ilsley, J.L.1    Sudol, M.2    Winder, S.J.3
  • 32
    • 0028283972 scopus 로고
    • Calmodulin-activated phosphorylation of dystrophin
    • Madhavan R., Jarrett H.W. Calmodulin-activated phosphorylation of dystrophin. Biochemistry. 33:1994;5797-5804.
    • (1994) Biochemistry , vol.33 , pp. 5797-5804
    • Madhavan, R.1    Jarrett, H.W.2
  • 33
    • 0027172743 scopus 로고
    • Dystrophin expression in the human retina is required for normal function as defined by electroretinography
    • Pillers D.M., Bulman D.E., Weleber R.G., et al. Dystrophin expression in the human retina is required for normal function as defined by electroretinography. Nat Genet. 4:1993;82-86.
    • (1993) Nat Genet , vol.4 , pp. 82-86
    • Pillers, D.M.1    Bulman, D.E.2    Weleber, R.G.3
  • 35
    • 0028937525 scopus 로고
    • Dp140: A novel 140 kDa CNS transcript from the dystrophin locus
    • Lidov H.G., Selig S., Kunkel L.M. Dp140: a novel 140 kDa CNS transcript from the dystrophin locus. Hum Mol Genet. 4:1995;329-335.
    • (1995) Hum Mol Genet , vol.4 , pp. 329-335
    • Lidov, H.G.1    Selig, S.2    Kunkel, L.M.3
  • 36
    • 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. 4:1993;77-81.
    • (1993) Nat Genet , vol.4 , pp. 77-81
    • Byers, T.J.1    Lidov, H.G.2    Kunkel, L.M.3
  • 37
    • 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. 272:1990;557-560.
    • (1990) Biochem J , vol.272 , pp. 557-560
    • Bar, S.1    Barnea, E.2    Levy, Z.3    Neuman, S.4    Yaffe, D.5    Nudel, U.6
  • 38
  • 39
    • 0024815723 scopus 로고
    • Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
    • Den Dunnen J.T., Grootscholten P.M., Bakker E., et al. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet. 45:1989;835-847.
    • (1989) Am J Hum Genet , vol.45 , pp. 835-847
    • Den Dunnen, J.T.1    Grootscholten, P.M.2    Bakker, E.3
  • 40
    • 0025244924 scopus 로고
    • Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
    • Beggs A.H., Koenig M., Boyce F.M., Kunkel L.M. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet. 86:1990;45-48.
    • (1990) Hum Genet , vol.86 , pp. 45-48
    • Beggs, A.H.1    Koenig, M.2    Boyce, F.M.3    Kunkel, L.M.4
  • 41
    • 0026950937 scopus 로고
    • Two hot spots of recombination in the DMD gene correlate with the deletion prone regions
    • Oudet C., Hanauer A., Clemens P., Caskey T., Mandel J.L. Two hot spots of recombination in the DMD gene correlate with the deletion prone regions. Hum Mol Genet. 1:1992;599-603.
    • (1992) Hum Mol Genet , vol.1 , pp. 599-603
    • Oudet, C.1    Hanauer, A.2    Clemens, P.3    Caskey, T.4    Mandel, J.L.5
  • 42
    • 0029153184 scopus 로고
    • Genomic organization of the human dystrophin gene across the major deletion hot spot and the 39 region
    • Nobile C., Galvagni F., Marchi J., Roberts R., Vitiello L. Genomic organization of the human dystrophin gene across the major deletion hot spot and the 39 region. Genomics. 28:1995;97-100.
    • (1995) Genomics , vol.28 , pp. 97-100
    • Nobile, C.1    Galvagni, F.2    Marchi, J.3    Roberts, R.4    Vitiello, L.5
  • 43
    • 0026522569 scopus 로고
    • Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene
    • Abbs S., Bobrow M. Analysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene. J Med Genet. 29:1992;191-196.
    • (1992) J Med Genet , vol.29 , pp. 191-196
    • Abbs, S.1    Bobrow, M.2
  • 44
    • 0030016279 scopus 로고    scopus 로고
    • Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis
    • Yau S.C., Bobrow M., Mathew C.G., Abbs S.J. Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet. 33:1996;550-558.
    • (1996) J Med Genet , vol.33 , pp. 550-558
    • Yau, S.C.1    Bobrow, M.2    Mathew, C.G.3    Abbs, S.J.4
  • 45
    • 18444368121 scopus 로고    scopus 로고
    • Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization
    • White S., Kalf M., Liu Q., et al. Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet. 71:2002;365-374.
    • (2002) Am J Hum Genet , vol.71 , pp. 365-374
    • White, S.1    Kalf, M.2    Liu, Q.3
  • 46
    • 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. 28:1991;860-864.
    • (1991) J Med Genet , vol.28 , pp. 860-864
    • Love, D.R.1    Flint, T.J.2    Genet, S.A.3    Middleton-Price, H.R.4    Davies, K.E.5
  • 47
    • 0025159208 scopus 로고
    • Very mild muscular dystrophy associated with the deletion of 46% of dystrophin
    • England S.B., Nicholson L.V., Johnson M.A., et al. Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature. 343:1990;180-182.
    • (1990) Nature , vol.343 , pp. 180-182
    • England, S.B.1    Nicholson, L.V.2    Johnson, M.A.3
  • 48
    • 0025006351 scopus 로고
    • Characterization of deletions in the dystrophin gene giving mild phenotypes
    • Love D.R., Flint T.J., Marsden R.F., et al. Characterization of deletions in the dystrophin gene giving mild phenotypes. Am J Med Genet. 37:1990;136-142.
    • (1990) Am J Med Genet , vol.37 , pp. 136-142
    • Love, D.R.1    Flint, T.J.2    Marsden, R.F.3
  • 49
    • 0030271537 scopus 로고    scopus 로고
    • Prognostic factors in mild dystrophinopathies
    • Angelini C., Fanin M., Freda M.P., et al. Prognostic factors in mild dystrophinopathies. J Neurol Sci. 142:1996;70-78.
    • (1996) J Neurol Sci , vol.142 , pp. 70-78
    • Angelini, C.1    Fanin, M.2    Freda, M.P.3
  • 50
    • 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., et al. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet. 49:1991;54-67.
    • (1991) Am J Hum Genet , vol.49 , pp. 54-67
    • Beggs, A.H.1    Hoffman, E.P.2    Snyder, J.R.3
  • 51
    • 0024455248 scopus 로고
    • Familial X-linked myalgia and cramps: A nonprogressive myopathy associated with a deletion in the dystrophin gene
    • Gospe S.M. Jr, 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. 39:1989;1277-1280.
    • (1989) Neurology , vol.39 , pp. 1277-1280
    • Gospe Jr., S.M.1    Lazaro, R.P.2    Lava, N.S.3    Grootscholten, P.M.4    Scott, M.O.5    Fischbeck, K.H.6
  • 52
    • 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., 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. 2:1998;255-261.
    • (1998) Eur J Paediatr Neurol , vol.2 , pp. 255-261
    • Melis, M.A.1    Cau, M.2    Muntoni, F.3
  • 53
    • 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. 2:(1):1988;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
  • 54
    • 0035168526 scopus 로고    scopus 로고
    • Long mutant dystrophins and variable phenotypes: Evasion of nonsense-mediated decay?
    • Kerr T.P., Sewry C.A., Robb S.A., Roberts R.G. Long mutant dystrophins and variable phenotypes: evasion of nonsense-mediated decay? Hum Genet. 109:2001;402-407.
    • (2001) Hum Genet , vol.109 , pp. 402-407
    • Kerr, T.P.1    Sewry, C.A.2    Robb, S.A.3    Roberts, R.G.4
  • 55
    • 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., et al. The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet. 45:1989;498-506.
    • (1989) Am J Hum Genet , vol.45 , pp. 498-506
    • Koenig, M.1    Beggs, A.H.2    Moyer, M.3
  • 56
    • 0025092618 scopus 로고
    • Integrated dystrophin analysis using immunocytochemical, biochemical and genetic techniques
    • Nicholson L.V., Johnson M.A., Davies K.E. Integrated dystrophin analysis using immunocytochemical, biochemical and genetic techniques. Basic Appl Histochem. 34:1990;169-175.
    • (1990) Basic Appl Histochem , vol.34 , pp. 169-175
    • Nicholson, L.V.1    Johnson, M.A.2    Davies, K.E.3
  • 57
    • 0023812570 scopus 로고
    • Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy
    • Malhotra S.B., Hart K.A., Klamut H.J., et al. Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science. 242:1988;755-759.
    • (1988) Science , vol.242 , pp. 755-759
    • Malhotra, S.B.1    Hart, K.A.2    Klamut, H.J.3
  • 58
    • 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. 39:1989;465-474.
    • (1989) Neurology , vol.39 , pp. 465-474
    • Baumbach, L.L.1    Chamberlain, J.S.2    Ward, P.A.3    Farwell, N.J.4    Caskey, C.T.5
  • 59
    • 0024430346 scopus 로고
    • Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene
    • Gillard E.F., Chamberlain J.S., Murphy E.G., et al. Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am J Hum Genet. 45:1989;507-520.
    • (1989) Am J Hum Genet , vol.45 , pp. 507-520
    • Gillard, E.F.1    Chamberlain, J.S.2    Murphy, E.G.3
  • 60
    • 0028104835 scopus 로고
    • Deletions in the 5′ region of dystrophin and resulting phenotypes
    • Muntoni F., Gobbi P., Sewry C., et al. Deletions in the 5′ region of dystrophin and resulting phenotypes. J Med Genet. 31:1994;843-847.
    • (1994) J Med Genet , vol.31 , pp. 843-847
    • Muntoni, F.1    Gobbi, P.2    Sewry, C.3
  • 61
    • 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., et al. Preservation of the C-terminus of dystrophin molecule in the skeletal muscle from Becker muscular dystrophy. J Neurol Sci. 101:1991;148-156.
    • (1991) J Neurol Sci , vol.101 , pp. 148-156
    • Arahata, K.1    Beggs, A.H.2    Honda, H.3
  • 62
    • 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. 29:1992;892-896.
    • (1992) J Med Genet , vol.29 , 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
  • 63
    • 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. 108:1996;308-314.
    • (1996) Proc Assoc Am Physicians , vol.108 , pp. 308-314
    • Patria, S.Y.1    Alimsardjono, H.2    Nishio, H.3    Takeshima, Y.4    Nakamura, H.5    Matsuo, M.6
  • 64
    • 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. 56:1995;158-166.
    • (1995) Am J Hum Genet , vol.56 , pp. 158-166
    • Winnard, A.V.1    Mendell, J.R.2    Prior, T.W.3    Florence, J.4    Burghes, A.H.5
  • 65
    • 0027487938 scopus 로고
    • Exon skipping and translation in patients with frameshift deletions in the dystrophin gene
    • Sherratt T.G., Vulliamy T., Dubowitz V., Sewry C.A., Strong P.N. Exon skipping and translation in patients with frameshift deletions in the dystrophin gene. Am J Hum Genet. 53:1993;1007-1015.
    • (1993) Am J Hum Genet , vol.53 , pp. 1007-1015
    • Sherratt, T.G.1    Vulliamy, T.2    Dubowitz, V.3    Sewry, C.A.4    Strong, P.N.5
  • 66
    • 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., et al. Dystrophin expression in a Duchenne muscular dystrophy patient with a frame shift deletion. Neurology. 48:1997;486-488.
    • (1997) Neurology , vol.48 , pp. 486-488
    • Prior, T.W.1    Bartolo, C.2    Papp, A.C.3
  • 67
    • 0025847315 scopus 로고
    • Sequences of junction fragments in the deletion-prone region of the dystrophin gene
    • Love D.R., England S.B., Speer A., et al. Sequences of junction fragments in the deletion-prone region of the dystrophin gene. Genomics. 10:1991;57-67.
    • (1991) Genomics , vol.10 , pp. 57-67
    • Love, D.R.1    England, S.B.2    Speer, A.3
  • 68
    • 0025719080 scopus 로고
    • 242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread
    • Blonden L.A., Grootscholten P.M., den Dunnen J.T., et al. 242 breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread. Genomics. 10:1991;631-639.
    • (1991) Genomics , vol.10 , pp. 631-639
    • Blonden, L.A.1    Grootscholten, P.M.2    Den Dunnen, J.T.3
  • 69
    • 0026729311 scopus 로고
    • A transposon-like element in the deletion-prone region of the dystrophin gene
    • Pizzuti A., Pieretti M., Fenwick R.G., Gibbs R.A., Caskey C.T. A transposon-like element in the deletion-prone region of the dystrophin gene. Genomics. 13:1992;594-600.
    • (1992) Genomics , vol.13 , pp. 594-600
    • Pizzuti, A.1    Pieretti, M.2    Fenwick, R.G.3    Gibbs, R.A.4    Caskey, C.T.5
  • 70
    • 0030588069 scopus 로고    scopus 로고
    • Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3
    • Brown J., Dry K.L., Edgar A.J., et al. Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3. Genomics. 37:1996;200-210.
    • (1996) Genomics , vol.37 , pp. 200-210
    • Brown, J.1    Dry, K.L.2    Edgar, A.J.3
  • 71
    • 0033675621 scopus 로고    scopus 로고
    • Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: A novel source of genomic instability
    • Suminaga R., Takeshima Y., Yasuda K., Shiga N., Nakamura H., Matsuo M. Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: a novel source of genomic instability. J Hum Genet. 45:2000;331-336.
    • (2000) J Hum Genet , vol.45 , pp. 331-336
    • Suminaga, R.1    Takeshima, Y.2    Yasuda, K.3    Shiga, N.4    Nakamura, H.5    Matsuo, M.6
  • 72
    • 0036590135 scopus 로고    scopus 로고
    • Analysis of 22 deletion breakpoints in dystrophin intron 49
    • Nobile C., Toffolatti L., Rizzi F., et al. Analysis of 22 deletion breakpoints in dystrophin intron 49. Hum Genet. 110:2002;418-421.
    • (2002) Hum Genet , vol.110 , pp. 418-421
    • Nobile, C.1    Toffolatti, L.2    Rizzi, F.3
  • 73
    • 18744400225 scopus 로고    scopus 로고
    • Investigating the mechanism of chromosomal deletion: Characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene
    • Toffolatti L., Cardazzo B., Nobile C., et al. Investigating the mechanism of chromosomal deletion: characterization of 39 deletion breakpoints in introns 47 and 48 of the human dystrophin gene. Genomics. 80:2002;523-530.
    • (2002) Genomics , vol.80 , pp. 523-530
    • Toffolatti, L.1    Cardazzo, B.2    Nobile, C.3
  • 74
    • 0037361365 scopus 로고    scopus 로고
    • Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot
    • Sironi M., Pozzoli U., Cagliani R., et al. Relevance of sequence and structure elements for deletion events in the dystrophin gene major hot-spot. Hum Genet. 112:2003;272-288.
    • (2003) Hum Genet , vol.112 , pp. 272-288
    • Sironi, M.1    Pozzoli, U.2    Cagliani, R.3
  • 75
    • 0038309083 scopus 로고    scopus 로고
    • Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: In vitro mimicking and antisense modulation of the splicing abnormality
    • Gualandi F., Rimessi P., Cardazzo B., et al. Genomic definition of a pure intronic dystrophin deletion responsible for an XLDC splicing mutation: in vitro mimicking and antisense modulation of the splicing abnormality. Gene. 311:2003;25-33.
    • (2003) Gene , vol.311 , pp. 25-33
    • Gualandi, F.1    Rimessi, P.2    Cardazzo, B.3
  • 76
    • 0142155623 scopus 로고    scopus 로고
    • Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion
    • Gualandi F. T.C., Rimessi P., Calzolari E., et al. Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion. J Med Genet. 40:2003;100.
    • (2003) J Med Genet , vol.40 , pp. 100
    • Gualandi, F.T.C.1    Rimessi, P.2    Calzolari, E.3
  • 77
    • 0030963232 scopus 로고    scopus 로고
    • Dystrophin gene transcripts skipping the mdx mutation
    • Wilton S.D., Dye D.E., Laing N.G. Dystrophin gene transcripts skipping the mdx mutation. Muscle Nerve. 20:1997;728-734.
    • (1997) Muscle Nerve , vol.20 , pp. 728-734
    • Wilton, S.D.1    Dye, D.E.2    Laing, N.G.3
  • 78
    • 0034611016 scopus 로고    scopus 로고
    • Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion
    • Lu Q.L., Morris G.E., Wilton S.D., et al. Massive idiosyncratic exon skipping corrects the nonsense mutation in dystrophic mouse muscle and produces functional revertant fibers by clonal expansion. J Cell Biol. 148:2000;985-996.
    • (2000) J Cell Biol , vol.148 , pp. 985-996
    • Lu, Q.L.1    Morris, G.E.2    Wilton, S.D.3
  • 79
    • 0037468459 scopus 로고    scopus 로고
    • Trans-acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles
    • Sironi M., Cagliani R., Comi G.P., et al. Trans-acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles. FEBS Lett. 537:2003;30-34.
    • (2003) FEBS Lett , vol.537 , pp. 30-34
    • Sironi, M.1    Cagliani, R.2    Comi, G.P.3
  • 80
    • 0033044501 scopus 로고    scopus 로고
    • Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides
    • Wilton S.D., Lloyd F., Carville K., et al. Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides. Neuromuscul Disord. 9:1999;330-338.
    • (1999) Neuromuscul Disord , vol.9 , pp. 330-338
    • Wilton, S.D.1    Lloyd, F.2    Carville, K.3
  • 81
    • 0035793047 scopus 로고    scopus 로고
    • Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse
    • Mann C.J., Honeyman K., Cheng A.J., et al. Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proc Natl Acad Sci USA. 98:2001;42-47.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 42-47
    • Mann, C.J.1    Honeyman, K.2    Cheng, A.J.3
  • 82
    • 0035878539 scopus 로고    scopus 로고
    • Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells
    • van Deutekom J.C., Bremmer-Bout M., Janson A.A., et al. Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Hum Mol Genet. 10:2001;1547-1554.
    • (2001) Hum Mol Genet , vol.10 , pp. 1547-1554
    • Van Deutekom, J.C.1    Bremmer-Bout, M.2    Janson, A.A.3
  • 83
    • 0037047111 scopus 로고    scopus 로고
    • Chimeric snRNA molecules carrying antisense sequences against the splice junctions of exon 51 of the dystrophin pre-mRNA induce exon skipping and restoration of a dystrophin synthesis in Delta 48-50 DMD cells
    • De Angelis F.G., Sthandier O., Berarducci B., et al. Chimeric snRNA molecules carrying antisense sequences against the splice junctions of exon 51 of the dystrophin pre-mRNA induce exon skipping and restoration of a dystrophin synthesis in Delta 48-50 DMD cells. Proc Natl Acad Sci USA. 99:2002;9456-9461.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 9456-9461
    • De Angelis, F.G.1    Sthandier, O.2    Berarducci, B.3
  • 84
    • 0013181060 scopus 로고    scopus 로고
    • Improved antisense oligonucleotide induced exon skipping in the mdx mouse model of muscular dystrophy
    • Mann C.J., Honeyman K., McClorey G., Fletcher S., Wilton S.D. Improved antisense oligonucleotide induced exon skipping in the mdx mouse model of muscular dystrophy. J Gene Med. 4:2002;644-654.
    • (2002) J Gene Med , vol.4 , pp. 644-654
    • Mann, C.J.1    Honeyman, K.2    Mcclorey, G.3    Fletcher, S.4    Wilton, S.D.5
  • 86
    • 0037447517 scopus 로고    scopus 로고
    • Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients
    • Aartsma-Rus A., Janson A.A., Kaman W.E., et al. Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. Hum Mol Genet. 12:2003;907-914.
    • (2003) Hum Mol Genet , vol.12 , pp. 907-914
    • Aartsma-Rus, A.1    Janson, A.A.2    Kaman, W.E.3
  • 87
    • 0038440559 scopus 로고    scopus 로고
    • Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping
    • Bertoni C., Lau C., Rando T.A. Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping. Hum Mol Genet. 12:2003;1087-1099.
    • (2003) Hum Mol Genet , vol.12 , pp. 1087-1099
    • Bertoni, C.1    Lau, C.2    Rando, T.A.3
  • 88
    • 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., et al. Large in-frame deletions of the rod-shaped domain of the dystrophin gene resulting in severe phenotype. Isr Med Assoc J. 5:2003;94-97.
    • (2003) Isr Med Assoc J , vol.5 , pp. 94-97
    • Nevo, Y.1    Muntoni, F.2    Sewry, C.3
  • 89
    • 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., et al. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy, II: correlation of phenotype with genetic and protein abnormalities. J Neurol. 240:1993;105-112.
    • (1993) J Neurol , vol.240 , pp. 105-112
    • Bushby, K.M.1    Gardner-Medwin, D.2    Nicholson, L.V.3
  • 90
    • 0036705303 scopus 로고    scopus 로고
    • The future of Duchenne muscular dystrophy gene therapy: Shrinking the dystrophin gene
    • Roberts M., Dickson G. The future of Duchenne muscular dystrophy gene therapy: shrinking the dystrophin gene. Curr Opin Mol Ther. 4:2002;343-348.
    • (2002) Curr Opin Mol Ther , vol.4 , pp. 343-348
    • Roberts, M.1    Dickson, G.2
  • 91
    • 0029122522 scopus 로고
    • Expression of human full-length and minidystrophin in transgenic mdx mice: Implications for gene therapy of Duchenne muscular dystrophy
    • Wells D.J., Wells K.E., Asante E.A., et al. Expression of human full-length and minidystrophin in transgenic mdx mice: implications for gene therapy of Duchenne muscular dystrophy. Hum Mol Genet. 4:1995;1245-1250.
    • (1995) Hum Mol Genet , vol.4 , pp. 1245-1250
    • Wells, D.J.1    Wells, K.E.2    Asante, E.A.3
  • 92
    • 0036127393 scopus 로고    scopus 로고
    • Modular flexibility of dystrophin: Implications for gene therapy of Duchenne muscular dystrophy
    • Harper S.Q., Hauser M.A., DelloRusso C., et al. Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy. Nat Med. 8:2002;253-261.
    • (2002) Nat Med , vol.8 , pp. 253-261
    • Harper, S.Q.1    Hauser, M.A.2    Dellorusso, C.3
  • 93
    • 0036796262 scopus 로고    scopus 로고
    • Gene therapy of muscular dystrophy
    • Chamberlain J.S. Gene therapy of muscular dystrophy. Hum Mol Genet. 11:2002;2355-2362.
    • (2002) Hum Mol Genet , vol.11 , pp. 2355-2362
    • Chamberlain, J.S.1
  • 94
    • 0028303798 scopus 로고
    • Searching for the 1 in 2,400,000: A review of dystrophin gene point mutations
    • Roberts R.G., Gardner R.J., Bobrow M. Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum Mutat. 4:1994;1-11.
    • (1994) Hum Mutat , vol.4 , pp. 1-11
    • Roberts, R.G.1    Gardner, R.J.2    Bobrow, M.3
  • 96
    • 0029144051 scopus 로고
    • Protein truncation test: Analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation
    • Tuffery S., Lenk U., Roberts R.G., Coubes C., Demaille J., Claustres M. Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. Hum Mutat. 6:1995;126-135.
    • (1995) Hum Mutat , vol.6 , pp. 126-135
    • Tuffery, S.1    Lenk, U.2    Roberts, R.G.3    Coubes, C.4    Demaille, J.5    Claustres, M.6
  • 97
    • 0032756947 scopus 로고    scopus 로고
    • Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects
    • Tuffery-Giraud S., Chambert S., Demaille J., Claustres M. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects. Hum Mutat. 14:1999;359-368.
    • (1999) Hum Mutat , vol.14 , pp. 359-368
    • Tuffery-Giraud, S.1    Chambert, S.2    Demaille, J.3    Claustres, M.4
  • 99
    • 0031292263 scopus 로고    scopus 로고
    • Dystrophin point mutation screening using a multiplexed protein truncation test
    • Whittock N.V., Roberts R.G., Mathew C.G., Abbs S.J. Dystrophin point mutation screening using a multiplexed protein truncation test. Genet Test. 1:1997;115-123.
    • (1997) Genet Test , vol.1 , pp. 115-123
    • Whittock, N.V.1    Roberts, R.G.2    Mathew, C.G.3    Abbs, S.J.4
  • 100
    • 0032231396 scopus 로고    scopus 로고
    • A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy
    • Ferlini A., Galie N., Merlini L., Sewry C., Branzi A., Muntoni F. A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. Am J Hum Genet. 63:1998;436-446.
    • (1998) Am J Hum Genet , vol.63 , pp. 436-446
    • Ferlini, A.1    Galie, N.2    Merlini, L.3    Sewry, C.4    Branzi, A.5    Muntoni, F.6
  • 101
    • 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., 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. 8:2000;793-796.
    • (2000) Eur J Hum Genet , vol.8 , pp. 793-796
    • Ginjaar, I.B.1    Kneppers, A.L.2    V D Meulen, J.D.3
  • 102
    • 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., 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. 100:1997;2204-2210.
    • (1997) J Clin Invest , vol.100 , pp. 2204-2210
    • Shiga, N.1    Takeshima, Y.2    Sakamoto, H.3
  • 103
    • 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. 12:2002;845-848.
    • (2002) Neuromuscul Disord , vol.12 , pp. 845-848
    • Dolinsky, L.C.1    De Moura-Neto, R.S.2    Falcao-Conceicao, D.N.3
  • 104
    • 0035964228 scopus 로고    scopus 로고
    • Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
    • Mendell J.R., Buzin C.H., Feng J., et al. Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology. 57:2001;645-650.
    • (2001) Neurology , vol.57 , pp. 645-650
    • Mendell, J.R.1    Buzin, C.H.2    Feng, J.3
  • 105
    • 0036396662 scopus 로고    scopus 로고
    • Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy
    • Feng J., Yan J., Buzin C.H., Towbin J.A., Sommer S.S. Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. Mol Genet Metab. 77:2002;119-126.
    • (2002) Mol Genet Metab , vol.77 , pp. 119-126
    • Feng, J.1    Yan, J.2    Buzin, C.H.3    Towbin, J.A.4    Sommer, S.S.5
  • 107
    • 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. 2:2001;17.
    • (2001) BMC Genet , vol.2 , pp. 17
    • Bennett, R.R.1    Den Dunnen, J.2    O'brien, K.F.3    Darras, B.T.4    Kunkel, L.M.5
  • 108
    • 0028217857 scopus 로고
    • Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16
    • Prior T.W., Bartolo C., Papp A.C., et al. Identification of a missense mutation, single base deletion and a polymorphism in the dystrophin exon 16. Hum Mol Genet. 3:1994;1173-1174.
    • (1994) Hum Mol Genet , vol.3 , pp. 1173-1174
    • Prior, T.W.1    Bartolo, C.2    Papp, A.C.3
  • 109
    • 0032744967 scopus 로고    scopus 로고
    • Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA)
    • Eraslan S., Kayserili H., Apak M.Y., Kirdar B. Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA). Eur J Hum Genet. 7:1999;765-770.
    • (1999) Eur J Hum Genet , vol.7 , pp. 765-770
    • Eraslan, S.1    Kayserili, H.2    Apak, M.Y.3    Kirdar, B.4
  • 110
    • 0030016360 scopus 로고    scopus 로고
    • A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave
    • Lenk U., Oexle K., Voit T., et al. A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave. Hum Mol Genet. 5:1996;973-975.
    • (1996) Hum Mol Genet , vol.5 , pp. 973-975
    • Lenk, U.1    Oexle, K.2    Voit, T.3
  • 111
    • 0031736870 scopus 로고    scopus 로고
    • A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype
    • Goldberg L.R., Hausmanowa-Petrusewicz I., Fidzianska A., Duggan D.J., Steinberg L.S., Hoffman E.P. A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype. Ann Neurol. 44:1998;971-976.
    • (1998) Ann Neurol , vol.44 , pp. 971-976
    • Goldberg, L.R.1    Hausmanowa-Petrusewicz, I.2    Fidzianska, A.3    Duggan, D.J.4    Steinberg, L.S.5    Hoffman, E.P.6
  • 112
    • 0027265702 scopus 로고
    • Brief report: Deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy
    • Muntoni F., Cau M., Ganau A., et al. Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med. 329:1993;921-925.
    • (1993) N Engl J Med , vol.329 , pp. 921-925
    • Muntoni, F.1    Cau, M.2    Ganau, A.3
  • 113
    • 14444268277 scopus 로고    scopus 로고
    • Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy
    • Muntoni F., Di Lenarda A., Porcu M., et al. Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. Heart. 78:1997;608-612.
    • (1997) Heart , vol.78 , pp. 608-612
    • Muntoni, F.1    Di Lenarda, A.2    Porcu, M.3
  • 115
    • 12244302491 scopus 로고    scopus 로고
    • A novel muscle-specific enhancer identified within the deletion overlap region of two XLDC patients lacking muscle exon 1 of the human dystrophin gene
    • Bastianutto C., De Visser M., Muntoni F., Klamut H.J., Patarnello T. A novel muscle-specific enhancer identified within the deletion overlap region of two XLDC patients lacking muscle exon 1 of the human dystrophin gene. Genomics. 80:2002;614-620.
    • (2002) Genomics , vol.80 , pp. 614-620
    • Bastianutto, C.1    De Visser, M.2    Muntoni, F.3    Klamut, H.J.4    Patarnello, T.5
  • 116
    • 0030028518 scopus 로고    scopus 로고
    • A point mutation in the 59 splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy
    • Milasin J., Muntoni F., Severini G.M., et al. A point mutation in the 59 splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum Mol Genet. 5:1996;73-79.
    • (1996) Hum Mol Genet , vol.5 , pp. 73-79
    • Milasin, J.1    Muntoni, F.2    Severini, G.M.3
  • 117
    • 0037130785 scopus 로고    scopus 로고
    • Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy
    • Feng J., Yan J.Y., Buzin C.H., Sommer S.S., Towbin J.A. Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy. J Am Coll Cardiol. 40:2002;1120-1124.
    • (2002) J Am Coll Cardiol , vol.40 , pp. 1120-1124
    • Feng, J.1    Yan, J.Y.2    Buzin, C.H.3    Sommer, S.S.4    Towbin, J.A.5
  • 118
    • 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. 7:1998;1129-1132.
    • (1998) Hum Mol Genet , vol.7 , pp. 1129-1132
    • Yoshida, K.1    Nakamura, A.2    Yazaki, M.3    Ikeda, S.4    Takeda, S.5
  • 119
    • 0029114103 scopus 로고
    • A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart
    • Muntoni F., Wilson L., Marrosu G., et al. A mutation in the dystrophin gene selectively affecting dystrophin expression in the heart. J Clin Invest. 96:1995;693-699.
    • (1995) J Clin Invest , vol.96 , pp. 693-699
    • Muntoni, F.1    Wilson, L.2    Marrosu, G.3
  • 120
    • 0343963762 scopus 로고    scopus 로고
    • Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy
    • Franz W.M., Muller M., Muller O.J., et al. Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. Lancet. 355:2000;1781-1785.
    • (2000) Lancet , vol.355 , pp. 1781-1785
    • Franz, W.M.1    Muller, M.2    Muller, O.J.3
  • 122
    • 0036156243 scopus 로고    scopus 로고
    • Brain function in Duchenne muscular dystrophy
    • Anderson J.L., Head S.I., Rae C., Morley J.W. Brain function in Duchenne muscular dystrophy. Brain. 125:2002;4-13.
    • (2002) Brain , vol.125 , pp. 4-13
    • Anderson, J.L.1    Head, S.I.2    Rae, C.3    Morley, J.W.4
  • 123
    • 0034068415 scopus 로고    scopus 로고
    • Brain dystrophin, neurogenetics and mental retardation
    • Mehler M.F. Brain dystrophin, neurogenetics and mental retardation. Brain Res Brain Res Rev. 32:2000;277-307.
    • (2000) Brain Res Brain Res Rev , vol.32 , pp. 277-307
    • Mehler, M.F.1
  • 125
    • 0027929953 scopus 로고
    • Cognitive impairment in Duchenne muscular dystrophy
    • Bresolin N., Castelli E., Comi G.P., et al. Cognitive impairment in Duchenne muscular dystrophy. Neuromuscul Disord. 4:1994;359-369.
    • (1994) Neuromuscul Disord , vol.4 , pp. 359-369
    • Bresolin, N.1    Castelli, E.2    Comi, G.P.3
  • 127
    • 0027052612 scopus 로고
    • Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability
    • Hodgson S.V., Abbs S., Clark S., et al. Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy, with special reference to mental ability. Neuromuscul Disord. 2:1992;269-276.
    • (1992) Neuromuscul Disord , vol.2 , pp. 269-276
    • Hodgson, S.V.1    Abbs, S.2    Clark, S.3
  • 128
    • 0026793301 scopus 로고
    • A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation
    • Rapaport D., Passos-Bueno M.R., Takata R.I., et al. A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation. Neuromuscul Disord. 2:1992;117-120.
    • (1992) Neuromuscul Disord , vol.2 , pp. 117-120
    • Rapaport, D.1    Passos-Bueno, M.R.2    Takata, R.I.3
  • 129
    • 0033841262 scopus 로고    scopus 로고
    • Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy
    • Felisari G., Martinelli Boneschi F., Bardoni A., et al. Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy. Neurology. 55:2000;559-564.
    • (2000) Neurology , vol.55 , pp. 559-564
    • Felisari, G.1    Martinelli Boneschi, F.2    Bardoni, A.3
  • 130
    • 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. 80:1998;32-41.
    • (1998) Am J Med Genet , vol.80 , pp. 32-41
    • Moizard, M.P.1    Billard, C.2    Toutain, A.3    Berret, F.4    Marmin, N.5    Moraine, C.6
  • 131
    • 0033920086 scopus 로고    scopus 로고
    • Severe cognitive impairment in DMD: Obvious clinical indication for Dp71 isoform point mutation screening
    • Moizard M.P., Toutain A., Fournier D., et al. Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening. Eur J Hum Genet. 8:2000;552-556.
    • (2000) Eur J Hum Genet , vol.8 , pp. 552-556
    • Moizard, M.P.1    Toutain, A.2    Fournier, D.3
  • 132
    • 0027484533 scopus 로고
    • Point mutations at the carboxy terminus of the human dystrophin gene: Implications for an association with mental retardation in DMD patients
    • Lenk U., Hanke R., Thiele H., Speer A. Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients. Hum Mol Genet. 2:1993;1877-1881.
    • (1993) Hum Mol Genet , vol.2 , pp. 1877-1881
    • Lenk, U.1    Hanke, R.2    Thiele, H.3    Speer, A.4
  • 133
    • 0032222930 scopus 로고    scopus 로고
    • Two novel mutations (10410 T_G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation: Mutations in brief no 149, online
    • Cau M., Cao A., Loi D., et al. Two novel mutations (10410 T_G; 10296 del C) at carboxy-terminus of the dystrophin gene associated with mental retardation: mutations in brief no 149, online. Hum Mutat. 12:1998;70.
    • (1998) Hum Mutat , vol.12 , pp. 70
    • Cau, M.1    Cao, A.2    Loi, D.3
  • 134
    • 0031975894 scopus 로고    scopus 로고
    • Novel nonsense mutation (C_A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy
    • Melis MA, Muntoni F, Cau M, et al. Novel nonsense mutation (C_A nt 10512) in exon 72 of dystrophin gene leading to exon skipping in a patient with a mild dystrophinopathy. Hum Mutat 1998; (suppl 1): S137-38.
    • (1998) Hum Mutat , vol.1 , Issue.SUPPL.
    • Melis, M.A.1    Muntoni, F.2    Cau, M.3
  • 135
    • 0037096375 scopus 로고    scopus 로고
    • GABAergic terminals are required for postsynaptic clustering of dystrophin but not of GABA(A) receptors and gephyrin
    • Brunig I., Suter A., Knuesel I., Luscher B., Fritschy J.M. GABAergic terminals are required for postsynaptic clustering of dystrophin but not of GABA(A) receptors and gephyrin. J Neurosci. 22:2002;4805-4813.
    • (2002) J Neurosci , vol.22 , pp. 4805-4813
    • Brunig, I.1    Suter, A.2    Knuesel, I.3    Luscher, B.4    Fritschy, J.M.5
  • 136
    • 0036954395 scopus 로고    scopus 로고
    • Facilitated CA1 hippocampal synaptic plasticity in dystrophin-deficient mice: Role for GABAA receptors?
    • Vaillend C., Billard J.M. Facilitated CA1 hippocampal synaptic plasticity in dystrophin-deficient mice: role for GABAA receptors? Hippocampus. 12:2002;713-717.
    • (2002) Hippocampus , vol.12 , pp. 713-717
    • Vaillend, C.1    Billard, J.M.2
  • 137
    • 0033258164 scopus 로고    scopus 로고
    • Short communication: Altered synaptic clustering of GABAA receptors in mice lacking dystrophin (mdx mice)
    • Knuesel I., Mastrocola M., Zuellig R.A., Bornhauser B., Schaub M.C., Fritschy J.M. Short communication: altered synaptic clustering of GABAA receptors in mice lacking dystrophin (mdx mice). Eur J Neurosci. 11:1999;4457-4462.
    • (1999) Eur J Neurosci , vol.11 , pp. 4457-4462
    • Knuesel, I.1    Mastrocola, M.2    Zuellig, R.A.3    Bornhauser, B.4    Schaub, M.C.5    Fritschy, J.M.6
  • 138
    • 0031683687 scopus 로고    scopus 로고
    • Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina
    • Howard P.L., Dally G.Y., Wong M.H., et al. Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina. Hum Mol Genet. 7:1998;1385-1391.
    • (1998) Hum Mol Genet , vol.7 , pp. 1385-1391
    • Howard, P.L.1    Dally, G.Y.2    Wong, M.H.3
  • 140
    • 0032847088 scopus 로고    scopus 로고
    • Duchenne/Becker muscular dystrophy: Correlation of phenotype by electroretinography with sites of dystrophin mutations
    • Pillers D.M., Fitzgerald K.M., Duncan N.M., et al. Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations. Hum Genet. 105:1999;2-9.
    • (1999) Hum Genet , vol.105 , pp. 2-9
    • Pillers, D.M.1    Fitzgerald, K.M.2    Duncan, N.M.3
  • 141
    • 0032805158 scopus 로고    scopus 로고
    • Effects of dystrophin isoforms on signal transduction through neural retina: Genotype-phenotype analysis of duchenne muscular dystrophy mouse mutants
    • Pillers D.A., Weleber R.G., Green D.G., et al. Effects of dystrophin isoforms on signal transduction through neural retina: genotype-phenotype analysis of duchenne muscular dystrophy mouse mutants. Mol Genet Metab. 66:1999;100-110.
    • (1999) Mol Genet Metab , vol.66 , pp. 100-110
    • Pillers, D.A.1    Weleber, R.G.2    Green, D.G.3
  • 142
    • 0028246265 scopus 로고
    • Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy
    • Sigesmund D.A., Weleber R.G., Pillers D.A., et al. Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy. Ophthalmology. 101:1994;856-865.
    • (1994) Ophthalmology , vol.101 , pp. 856-865
    • Sigesmund, D.A.1    Weleber, R.G.2    Pillers, D.A.3
  • 144
    • 0027383781 scopus 로고
    • Negative-configuration electroretinogram in Oregon eye disease: Consistent phenotype in Xp21 deletion syndrome
    • Pillers D.A., Seltzer W.K., Powell B.R., et al. Negative-configuration electroretinogram in Oregon eye disease: consistent phenotype in Xp21 deletion syndrome. Arch Ophthalmol. 111:1993;1558-1563.
    • (1993) Arch Ophthalmol , vol.111 , pp. 1558-1563
    • Pillers, D.A.1    Seltzer, W.K.2    Powell, B.R.3
  • 145
    • 0034987196 scopus 로고    scopus 로고
    • Differential distribution of the members of the dystrophin glycoprotein complex in mouse retina: Effect of the mdx(3Cv) mutation
    • Dalloz C., Claudepierre T., Rodius F., Mornet D., Sahel J., Rendon A. Differential distribution of the members of the dystrophin glycoprotein complex in mouse retina: effect of the mdx(3Cv) mutation. Mol Cell Neurosci. 17:2001;908-920.
    • (2001) Mol Cell Neurosci , vol.17 , pp. 908-920
    • Dalloz, C.1    Claudepierre, T.2    Rodius, F.3    Mornet, D.4    Sahel, J.5    Rendon, A.6
  • 146
    • 10744227341 scopus 로고    scopus 로고
    • Targeted inactivation of dystrophin gene product Dp71: Phenotypic impact in mouse retina
    • Dalloz C., Sarig R., Fort P., et al. Targeted inactivation of dystrophin gene product Dp71: phenotypic impact in mouse retina. Hum Mol Genet. 12:2003;1543-1554.
    • (2003) Hum Mol Genet , vol.12 , pp. 1543-1554
    • Dalloz, C.1    Sarig, R.2    Fort, P.3
  • 147
    • 9844224480 scopus 로고    scopus 로고
    • Dp260 disrupted mice revealed prolonged implicit time of the b-wave in ERG and loss of accumulation of beta-dystroglycan in the outer plexiform layer of the retina
    • Kameya S., Araki E., Katsuki M., et al. Dp260 disrupted mice revealed prolonged implicit time of the b-wave in ERG and loss of accumulation of beta-dystroglycan in the outer plexiform layer of the retina. Hum Mol Genet. 6:1997;2195-2203.
    • (1997) Hum Mol Genet , vol.6 , pp. 2195-2203
    • Kameya, S.1    Araki, E.2    Katsuki, M.3
  • 148
    • 0031052011 scopus 로고    scopus 로고
    • Extra-muscle involvement in dystrophinopathies: An electroretinography and evoked potential study
    • Girlanda P., Quartarone A., Buceti R., et al. Extra-muscle involvement in dystrophinopathies: an electroretinography and evoked potential study. J Neurol Sci. 146:1997;127-132.
    • (1997) J Neurol Sci , vol.146 , pp. 127-132
    • Girlanda, P.1    Quartarone, A.2    Buceti, R.3
  • 149
    • 0032711827 scopus 로고    scopus 로고
    • Dystrophin and the retina
    • Pillers D.A. Dystrophin and the retina. Mol Genet Metab. 68:1999;304-309.
    • (1999) Mol Genet Metab , vol.68 , pp. 304-309
    • Pillers, D.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.