메뉴 건너뛰기




Volumn 20, Issue 3, 2002, Pages 645-678

Genetic diseases of muscle

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN; DYSTROBREVIN; SARCOGLYCAN; SYNTROPHIN;

EID: 0036699086     PISSN: 07338619     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0733-8619(02)00002-6     Document Type: Review
Times cited : (36)

References (158)
  • 1
    • 0022496289 scopus 로고
    • Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene
    • Monaco AP, Neve RL, Colletti-Feener C, et al. Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature 1986;323:646-50.
    • (1986) Nature , vol.323 , pp. 646-650
    • Monaco, A.P.1    Neve, R.L.2    Colletti-Feener, C.3
  • 2
    • 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 EP, Bertelson CJ, et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-17.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3
  • 3
    • 0023614188 scopus 로고
    • Dystrophin: The protein product of the Duchenne muscular dystrophy locus
    • Hoffman EP, Brown Jr. RH, Kunkel LM. Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell 1987;51:919-28.
    • (1987) Cell , vol.51 , pp. 919-928
    • Hoffman, E.P.1    Brown R.H., Jr.2    Kunkel, L.M.3
  • 4
    • 17344365600 scopus 로고    scopus 로고
    • Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
    • Liu J, Aoki M, Illa I, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998;20:31-6.
    • (1998) Nat Genet , vol.20 , pp. 31-36
    • Liu, J.1    Aoki, M.2    Illa, I.3
  • 5
    • 0034719093 scopus 로고    scopus 로고
    • Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy
    • Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, et al. Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology 2000;55:1931-3.
    • (2000) Neurology , vol.55 , pp. 1931-1933
    • Illarioshkin, S.N.1    Ivanova-Smolenskaya, I.A.2    Greenberg, C.R.3
  • 6
    • 0027985787 scopus 로고
    • Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
    • Bione S, Maestrini E, Rivella S, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994;8:323-7.
    • (1994) Nat Genet , vol.8 , pp. 323-327
    • Bione, S.1    Maestrini, E.2    Rivella, S.3
  • 7
    • 0034702027 scopus 로고    scopus 로고
    • Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbances (LGMDIB)
    • Muchir A, Bonne G, Van Der Kooi AJ, et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbances (LGMDIB). Hum Mol Genet 2000;9:1453-9.
    • (2000) Hum Mol Genet , vol.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    Van Der Kooi, A.J.3
  • 9
    • 0034047562 scopus 로고    scopus 로고
    • The molecular diagnosis of metabolic myopathies
    • Vladutiu G. The molecular diagnosis of metabolic myopathies. Neurol Clin 2000;18:53-104.
    • (2000) Neurol Clin , vol.18 , pp. 53-104
    • Vladutiu, G.1
  • 10
    • 0034005474 scopus 로고    scopus 로고
    • Metabolic Myopathies
    • Pourmand R. Metabolic Myopathies. Neurol Clin 2000;18:1-14.
    • (2000) Neurol Clin , vol.18 , pp. 1-14
    • Pourmand, R.1
  • 11
    • 0025869545 scopus 로고
    • Prednisone in Duchenne dystrophy: A randomized, controlled trial defining the time course and dose response
    • Clinical Investigation of Duchenne Dystrophy Group
    • Griggs RC, Moxley 3rd RT, Mendell JR, et al. Prednisone in Duchenne dystrophy: A randomized, controlled trial defining the time course and dose response. Clinical Investigation of Duchenne Dystrophy Group. Arch Neurol 1991;48:383-8.
    • (1991) Arch Neurol , vol.48 , pp. 383-388
    • Griggs, R.C.1    Moxley R.T. III2    Mendell, J.R.3
  • 12
    • 0024332294 scopus 로고
    • Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy
    • Mendell JR, Moxley RT, Griggs RC, et al. Randomized, double-blind six-month trial of prednisone in Duchenne's muscular dystrophy. N Engl J Med 1989;320:1592-7.
    • (1989) N Engl J Med , vol.320 , pp. 1592-1597
    • Mendell, J.R.1    Moxley, R.T.2    Griggs, R.C.3
  • 13
    • 0016287539 scopus 로고
    • Prednisone in Duchenne muscular dystrophy
    • Drachman DB, Toyka KV, Myer E. Prednisone in Duchenne muscular dystrophy. Lancet 1974;2:1409-12.
    • (1974) Lancet , vol.2 , pp. 1409-1412
    • Drachman, D.B.1    Toyka, K.V.2    Myer, E.3
  • 14
    • 0026764256 scopus 로고
    • Dystrophinopathy in isolated cases of myopathy in females
    • Hoffman EP, Arahata K, Minetti C, et al. Dystrophinopathy in isolated cases of myopathy in females. Neurology 1992;42:967-75.
    • (1992) Neurology , vol.42 , pp. 967-975
    • Hoffman, E.P.1    Arahata, K.2    Minetti, C.3
  • 15
    • 0020535878 scopus 로고
    • Prospective study of X-linked progressive muscular dystrophy in Campania
    • Nigro V. Prospective study of X-linked progressive muscular dystrophy in Campania. Muscle Nerve 1983;6:253-62.
    • (1983) Muscle Nerve , vol.6 , pp. 253-262
    • Nigro, V.1
  • 16
    • 0033662464 scopus 로고    scopus 로고
    • Cardiac involvement in primary myopathies
    • Finsterer J, Stollberger C. Cardiac involvement in primary myopathies. Cardiology 2000;94:1-11.
    • (2000) Cardiology , vol.94 , pp. 1-11
    • Finsterer, J.1    Stollberger, C.2
  • 17
    • 0030981051 scopus 로고    scopus 로고
    • Dystrophies and heart disease
    • Cox GF, Kunkel LM. Dystrophies and heart disease. Curr Opin Cardiol 1997;12:329-343.
    • (1997) Curr Opin Cardiol , vol.12 , pp. 329-343
    • Cox, G.F.1    Kunkel, L.M.2
  • 18
    • 0033551019 scopus 로고    scopus 로고
    • Absence of brain Dpl40 isoform and cognitive impairment in Becker muscular dystrophy
    • Bardoni A, Sironi M, Felisari G, et al. Absence of brain Dpl40 isoform and cognitive impairment in Becker muscular dystrophy. Lancet 1999;353:897-8.
    • (1999) Lancet , vol.353 , pp. 897-898
    • Bardoni, A.1    Sironi, M.2    Felisari, G.3
  • 19
    • 0027929953 scopus 로고
    • Cognitive impairment in Duchenne muscular dystrophy
    • Bresolin N, Castelli E, Comi GP, et al. Cognitive impairment in Duchenne muscular dystrophy. Neuromuscul Disord 1994;4:359-69.
    • (1994) Neuromuscul Disord , vol.4 , pp. 359-369
    • Bresolin, N.1    Castelli, E.2    Comi, G.P.3
  • 20
    • 0025257614 scopus 로고
    • Segregation analysis of 1885 DMD families: Significant departure from the expected proportion of sporadic cases
    • Barbujani G, Russo A, Danieli GA, et al. Segregation analysis of 1885 DMD families: significant departure from the expected proportion of sporadic cases. Hum Genet 1990;84:522-6.
    • (1990) Hum Genet , vol.84 , pp. 522-526
    • Barbujani, G.1    Russo, A.2    Danieli, G.A.3
  • 21
    • 0028092013 scopus 로고
    • Molecular diagnosis and modern management of Duchenne muscular dystrophy
    • Miller RG, Hoffman EP. Molecular diagnosis and modern management of Duchenne muscular dystrophy. Neurol Clin 1994;12:699-725.
    • (1994) Neurol Clin , vol.12 , pp. 699-725
    • Miller, R.G.1    Hoffman, E.P.2
  • 22
    • 0025244924 scopus 로고
    • Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
    • Beggs AH, Koenig M, Bocye FM, et al. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990;86:45-8.
    • (1990) Hum Genet , vol.86 , pp. 45-48
    • Beggs, A.H.1    Koenig, M.2    Bocye, F.M.3
  • 23
    • 0035964228 scopus 로고    scopus 로고
    • Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
    • Mendell JR, Buzin CH, Feng J, et al. Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 2001;57:574-5.
    • (2001) Neurology , vol.57 , pp. 574-575
    • Mendell, J.R.1    Buzin, C.H.2    Feng, J.3
  • 24
    • 0029073192 scopus 로고
    • Spectrum of small mutations in the dystrophin coding region
    • Prior TW, Bartolo C, Pearl DK, et al. Spectrum of small mutations in the dystrophin coding region. Am J Hum Genet 1995;57:22-3.
    • (1995) Am J Hum Genet , vol.57 , pp. 22-23
    • Prior, T.W.1    Bartolo, C.2    Pearl, D.K.3
  • 25
    • 0032720705 scopus 로고    scopus 로고
    • Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
    • Barton-Davis ER, Cordier L, Shoturma DI, et al. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 1999;104:375-81.
    • (1999) J Clin Invest , vol.104 , pp. 375-381
    • Barton-Davis, E.R.1    Cordier, L.2    Shoturma, D.I.3
  • 26
    • 0034982292 scopus 로고    scopus 로고
    • Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations
    • Wagner KR, Hamed S, Hadley DW, et al. Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol 2001;49:706-11.
    • (2001) Ann Neurol , vol.49 , pp. 706-711
    • Wagner, K.R.1    Hamed, S.2    Hadley, D.W.3
  • 27
    • 0002625353 scopus 로고    scopus 로고
    • Gentamicin treatment for muscular dystrophy patients with stop codon mutations
    • Serrano C, Wall C, Moore S, et al. Gentamicin treatment for muscular dystrophy patients with stop codon mutations. Neurology 2001;56(Suppl 3):A79.
    • (2001) Neurology , vol.56 , Issue.SUPPL. 3
    • Serrano, C.1    Wall, C.2    Moore, S.3
  • 28
    • 0032882445 scopus 로고    scopus 로고
    • The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms
    • Bushby KMD. The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms. Hum Mol Genet 1999;8:1875-82.
    • (1999) Hum Mol Genet , vol.8 , pp. 1875-1882
    • Bushby, K.M.D.1
  • 29
    • 17344367732 scopus 로고    scopus 로고
    • Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy
    • Speer MC, Gilchrist JM, Stajich JM, et al. Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. J Med Genet 1998;35:305-8.
    • (1998) J Med Genet , vol.35 , pp. 305-308
    • Speer, M.C.1    Gilchrist, J.M.2    Stajich, J.M.3
  • 30
    • 0034284682 scopus 로고    scopus 로고
    • Myotilin is mutated in limb girdle muscular dystrophy 1A
    • Hauser MA, Horrigan SK, Salmikangas P, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 2000;9:2141-7.
    • (2000) Hum Mol Genet , vol.9 , pp. 2141-2147
    • Hauser, M.A.1    Horrigan, S.K.2    Salmikangas, P.3
  • 31
    • 0344759163 scopus 로고    scopus 로고
    • Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy
    • Salmikangas P, Mykkanen OM, Gronholm M, et al. Myotilin, a novel sarcomeric protein with two Ig-like domains, is encoded by a candidate gene for limb-girdle muscular dystrophy. Hum Mol Genet 1999;8:1329-36.
    • (1999) Hum Mol Genet , vol.8 , pp. 1329-1336
    • Salmikangas, P.1    Mykkanen, O.M.2    Gronholm, M.3
  • 32
    • 0026690760 scopus 로고
    • Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: Linkage of an autosomal dominant form to chromosome 5q
    • Speer MC, Yamaoka LH, Gilchrist JM, et al. Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. Am J Hum Genet 1992;50:1211-7.
    • (1992) Am J Hum Genet , vol.50 , pp. 1211-1217
    • Speer, M.C.1    Yamaoka, L.H.2    Gilchrist, J.M.3
  • 33
    • 0030898109 scopus 로고    scopus 로고
    • Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21
    • Van Der Kooi AJ, Van Meegen M, Ledderhof TM, et al. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. Am J Hum Genet 1997;60:891-5.
    • (1997) Am J Hum Genet , vol.60 , pp. 891-895
    • Van Der Kooi, A.J.1    Van Meegen, M.2    Ledderhof, T.M.3
  • 34
    • 0031920515 scopus 로고    scopus 로고
    • Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
    • Minetti C, Sotgia F, Bruno C, et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet 1998;18:365-8.
    • (1998) Nat Genet , vol.18 , pp. 365-368
    • Minetti, C.1    Sotgia, F.2    Bruno, C.3
  • 36
    • 0035253580 scopus 로고    scopus 로고
    • Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity
    • Sunada Y, Ohi H, Hase A, et al. Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity. Hum Mol Genet 2001;10:173-8.
    • (2001) Hum Mol Genet , vol.10 , pp. 173-178
    • Sunada, Y.1    Ohi, H.2    Hase, A.3
  • 37
    • 0034944010 scopus 로고    scopus 로고
    • Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
    • Betz RC, Schoser BG, Kasper D, et al. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet 2001;28:218-9.
    • (2001) Nat Genet , vol.28 , pp. 218-219
    • Betz, R.C.1    Schoser, B.G.2    Kasper, D.3
  • 38
    • 0032559065 scopus 로고    scopus 로고
    • Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb-girdle muscular dystrophy 2D gene
    • McNally EM, Ly CT, Kunkel LM. Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb-girdle muscular dystrophy 2D gene. FEBS Lett 1998;422:27-32.
    • (1998) FEBS Lett , vol.422 , pp. 27-32
    • McNally, E.M.1    Ly, C.T.2    Kunkel, L.M.3
  • 39
    • 0032898847 scopus 로고    scopus 로고
    • The clinical spectrum of sarcoglycanopathies
    • Angelini C, Fanin M, Freda MP, et al. The clinical spectrum of sarcoglycanopathies. Neurology 1999;52:176-9.
    • (1999) Neurology , vol.52 , pp. 176-179
    • Angelini, C.1    Fanin, M.2    Freda, M.P.3
  • 40
    • 0033843869 scopus 로고    scopus 로고
    • Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice
    • Allamand V, Donahue KM, Straub V, et al. Early adenovirus-mediated gene transfer effectively prevents muscular dystrophy in alpha-sarcoglycan-deficient mice. Gene Ther 2000;7:1385-91.
    • (2000) Gene Ther , vol.7 , pp. 1385-1391
    • Allamand, V.1    Donahue, K.M.2    Straub, V.3
  • 41
    • 0034689207 scopus 로고    scopus 로고
    • Phase I clinical trial utilizing gene therapy for limb girdle muscular dystrophy: alpha-, beta-, gamma-, or delta-sarcoglycan gene delivered with intramuscular instillations of adeno-associated vectors
    • Stedman H, Wilson JM, Finke R, et al. Phase I clinical trial utilizing gene therapy for limb girdle muscular dystrophy: alpha-, beta-, gamma-, or delta-sarcoglycan gene delivered with intramuscular instillations of adeno-associated vectors. Hum Gene Ther 2000;11:777-90.
    • (2000) Hum Gene Ther , vol.11 , pp. 777-790
    • Stedman, H.1    Wilson, J.M.2    Finke, R.3
  • 42
    • 0026027805 scopus 로고
    • A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage
    • Beckmann JS, Richard I, Hillaire D, et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C R Acad Sci III 1991;312:141-8.
    • (1991) C R Acad Sci III , vol.312 , pp. 141-148
    • Beckmann, J.S.1    Richard, I.2    Hillaire, D.3
  • 43
    • 0035075146 scopus 로고    scopus 로고
    • The phenotype of calpainopathy: Diagnosis based on a multidisciplinary approach
    • Pollitt C, Anderson LVB, Pogue R, et al. The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach. Neuromuscul Disord 2001;11:287-96.
    • (2001) Neuromuscul Disord , vol.11 , pp. 287-296
    • Pollitt, C.1    Anderson, L.V.B.2    Pogue, R.3
  • 44
    • 0033596817 scopus 로고    scopus 로고
    • Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population
    • Chou FL, Angelini C, Daentl D, et al. Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population. Neurology 1999;52:1015-20.
    • (1999) Neurology , vol.52 , pp. 1015-1020
    • Chou, F.L.1    Angelini, C.2    Daentl, D.3
  • 45
    • 0033361883 scopus 로고    scopus 로고
    • Calpainopathy - A survey of mutations and polymorphisms
    • Richard I, Roudaut C, Saenz A, et al. Calpainopathy - A survey of mutations and polymorphisms. Am J Hum Genet 1999;64:1524-40.
    • (1999) Am J Hum Genet , vol.64 , pp. 1524-1540
    • Richard, I.1    Roudaut, C.2    Saenz, A.3
  • 46
    • 0033988650 scopus 로고    scopus 로고
    • Molecules in focus Calpains and muscular dystrophies
    • Tidball JG, Spencer MJ. Molecules in focus Calpains and muscular dystrophies. Int J Biochem Cell Biol 2000;32:1-5.
    • (2000) Int J Biochem Cell Biol , vol.32 , pp. 1-5
    • Tidball, J.G.1    Spencer, M.J.2
  • 47
    • 0032855394 scopus 로고    scopus 로고
    • Making sense of the limb-girdle muscular dystrophies
    • Bushby KMD. Making sense of the limb-girdle muscular dystrophies. Brain 1999;122:1403-20.
    • (1999) Brain , vol.122 , pp. 1403-1420
    • Bushby, K.M.D.1
  • 48
    • 17344363640 scopus 로고    scopus 로고
    • A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
    • Bashir R, Britton S, Strachan T, et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998;20:37-42.
    • (1998) Nat Genet , vol.20 , pp. 37-42
    • Bashir, R.1    Britton, S.2    Strachan, T.3
  • 49
    • 0028326542 scopus 로고
    • A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p
    • Bashir R, Strachan T, Keers S, et al. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 1994;3:455-7.
    • (1994) Hum Mol Genet , vol.3 , pp. 455-457
    • Bashir, R.1    Strachan, T.2    Keers, S.3
  • 50
    • 0035880516 scopus 로고    scopus 로고
    • The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle
    • Matsuda C, Hayashi YK, Ogawa M, et al. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 2001;10:1761-6.
    • (2001) Hum Mol Genet , vol.10 , pp. 1761-1766
    • Matsuda, C.1    Hayashi, Y.K.2    Ogawa, M.3
  • 51
    • 0036135804 scopus 로고    scopus 로고
    • A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy
    • Ho M, Gallardo E, McKenna-Yasek D, et al. A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and miyoshi myopathy. Ann Neurol 2002;51:129-32.
    • (2002) Ann Neurol , vol.51 , pp. 129-132
    • Ho, M.1    Gallardo, E.2    McKenna-Yasek, D.3
  • 52
    • 19244363787 scopus 로고    scopus 로고
    • Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation
    • McNally EM, Passos-Bueno MR, Bonnemann CG, et al. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet 1996;59:1040-7.
    • (1996) Am J Hum Genet , vol.59 , pp. 1040-1047
    • McNally, E.M.1    Passos-Bueno, M.R.2    Bonnemann, C.G.3
  • 53
    • 0033789275 scopus 로고    scopus 로고
    • Evaluation of heart involvement in γ-sarcoglycanopathy (LGMD2C). A study of ten patients
    • Calvo F, Teijeira S, Fernandez JM, et al. Evaluation of heart involvement in γ-sarcoglycanopathy (LGMD2C). A study of ten patients. Neuromuscul Disord 2000;10:560-6.
    • (2000) Neuromuscul Disord , vol.10 , pp. 560-566
    • Calvo, F.1    Teijeira, S.2    Fernandez, J.M.3
  • 54
    • 0028883973 scopus 로고
    • Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy
    • Nogauchi S, McNally EM, Ben Othmane K, et al. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science 1995;270:819-22.
    • (1995) Science , vol.270 , pp. 819-822
    • Nogauchi, S.1    McNally, E.M.2    Ben Othmane, K.3
  • 55
    • 0035139309 scopus 로고    scopus 로고
    • Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
    • Pogue R, Anderson LVB, Pyle A, et al. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord 2001;11:80-7.
    • (2001) Neuromuscul Disord , vol.11 , pp. 80-87
    • Pogue, R.1    Anderson, L.V.B.2    Pyle, A.3
  • 56
    • 0031981091 scopus 로고    scopus 로고
    • The heart in limb-girdle muscular dystrophy
    • Van Der Kooi AJ, De Voogt WG, Barth PG, et al. The heart in limb-girdle muscular dystrophy. Heart 1998;79:73-7.
    • (1998) Heart , vol.79 , pp. 73-77
    • Van Der Kooi, A.J.1    De Voogt, W.G.2    Barth, P.G.3
  • 57
    • 0028146869 scopus 로고
    • Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy
    • Roberds SL, Letureq F, Allamand V, et al. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy. Cell 78, 1994.
    • (1994) Cell , pp. 78
    • Roberds, S.L.1    Letureq, F.2    Allamand, V.3
  • 58
    • 16944365227 scopus 로고    scopus 로고
    • Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)
    • Carrie A, Piccolo F, Letureq F, et al. Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J Med Genet 1997;34:470-5.
    • (1997) J Med Genet , vol.34 , pp. 470-475
    • Carrie, A.1    Piccolo, F.2    Letureq, F.3
  • 59
    • 0032005626 scopus 로고    scopus 로고
    • Beta-sarcoglycan: Genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate
    • Duclos F, Broux O, Bourg N, et al. Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. Neuromuscul Disord 1998;8:30-8.
    • (1998) Neuromuscul Disord , vol.8 , pp. 30-38
    • Duclos, F.1    Broux, O.2    Bourg, N.3
  • 60
    • 0029816797 scopus 로고    scopus 로고
    • Autosomal recessive limb-girdle muscular dystrophy, LGMD2F is caused by a mutation in the δ;-sarcoglycan gene
    • Nigro V, De Sa Moreira E, Piluso G, et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F is caused by a mutation in the δ;-sarcoglycan gene. Nat Genet 1996;14:195-8.
    • (1996) Nat Genet , vol.14 , pp. 195-198
    • Nigro, V.1    De Sa Moreira, E.2    Piluso, G.3
  • 61
    • 8244259185 scopus 로고    scopus 로고
    • Identification of the Syrian hamster cardiomyopathy gene
    • Nigro V, Okazaki Y, Belsito A, et al. Identification of the Syrian hamster cardiomyopathy gene. Hum Mol Genet 1997;6:601-7.
    • (1997) Hum Mol Genet , vol.6 , pp. 601-607
    • Nigro, V.1    Okazaki, Y.2    Belsito, A.3
  • 62
    • 0031471956 scopus 로고    scopus 로고
    • Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: An animal model of disrupted dystrophin-associated glycoprotein complex
    • Sakamoto A, Ono K, Abe M, et al. Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: an animal model of disrupted dystrophin-associated glycoprotein complex. Proc Natl Acad Sci USA 1997;94:1373-8.
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 1373-1378
    • Sakamoto, A.1    Ono, K.2    Abe, M.3
  • 63
    • 0033954004 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
    • Moreira ES, Wiltshire TJ, Faulkner G, et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 2000;24:163-6.
    • (2000) Nat Genet , vol.24 , pp. 163-166
    • Moreira, E.S.1    Wiltshire, T.J.2    Faulkner, G.3
  • 64
    • 0031590316 scopus 로고    scopus 로고
    • Telethonin, a novel sarcomeric protein of heart and skeletal muscle
    • Valle G, Faulkner G, De Antoni A, et al. Telethonin, a novel sarcomeric protein of heart and skeletal muscle. FEBS Lett 1997;415:163-8.
    • (1997) FEBS Lett , vol.415 , pp. 163-168
    • Valle, G.1    Faulkner, G.2    De Antoni, A.3
  • 65
    • 0032231939 scopus 로고    scopus 로고
    • A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: Evidence for another limb-girdle muscular dystrophy locus
    • Weiler T, Greenberg CR, Zeleinski T, et al. A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus. Am J Hum Genet 1998;63:140-7.
    • (1998) Am J Hum Genet , vol.63 , pp. 140-147
    • Weiler, T.1    Greenberg, C.R.2    Zeleinski, T.3
  • 66
    • 0036179479 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene
    • Frosk P, Weiler T, Nylen E, et al. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am J Hum Genet 2002;70:663-72.
    • (2002) Am J Hum Genet , vol.70 , pp. 663-672
    • Frosk, P.1    Weiler, T.2    Nylen, E.3
  • 67
    • 0034214277 scopus 로고    scopus 로고
    • A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3
    • Driss A, Amouri R, Ben Hamida C, et al. A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. Neuromuscul Disord 2000;10:240-6.
    • (2000) Neuromuscul Disord , vol.10 , pp. 240-246
    • Driss, A.1    Amouri, R.2    Ben Hamida, C.3
  • 68
    • 0035212037 scopus 로고    scopus 로고
    • Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycoslyation of alpha-dystroglycan
    • Brockington M, Blake DJ, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycoslyation of alpha-dystroglycan. Am J Hum Genet 2001;69:1198-209.
    • (2001) Am J Hum Genet , vol.69 , pp. 1198-1209
    • Brockington, M.1    Blake, D.J.2    Prandini, P.3
  • 69
    • 0026320445 scopus 로고
    • Hearing loss in facioscapulohumeral muscular dystrophy
    • Brouwer OF, Padberg GW, Ruys CJ, et al. Hearing loss in facioscapulohumeral muscular dystrophy. Neurology 1991;41:1878-81.
    • (1991) Neurology , vol.41 , pp. 1878-1881
    • Brouwer, O.F.1    Padberg, G.W.2    Ruys, C.J.3
  • 70
    • 0002129761 scopus 로고
    • Retinal vascular disease and sensorineural deafness are part of facioscapulohumeral muscular dystrophy
    • Padberg GW, Brouwer OF, De Keizer RJW, et al. Retinal vascular disease and sensorineural deafness are part of facioscapulohumeral muscular dystrophy. Am J Hum Genet 1992;51:A104.
    • (1992) Am J Hum Genet , vol.51
    • Padberg, G.W.1    Brouwer, O.F.2    De Keizer, R.J.W.3
  • 71
    • 0026080958 scopus 로고
    • Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization
    • Wijmenga C, Padberg GW, Moerer P, et al. Mapping of facioscapulohumeral muscular dystrophy gene to chromosome 4q35-qter by multipoint linkage analysis and in situ hybridization. Genomics 1991;9:570-5.
    • (1991) Genomics , vol.9 , pp. 570-575
    • Wijmenga, C.1    Padberg, G.W.2    Moerer, P.3
  • 72
    • 0029827344 scopus 로고    scopus 로고
    • Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: Implications for genetic counselling and etiology of FSHD1
    • Van Deutekom JC, Bakker E, Lemmers RJ, et al. Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum Mol Genet 1996;5:1997-2003.
    • (1996) Hum Mol Genet , vol.5 , pp. 1997-2003
    • Van Deutekom, J.C.1    Bakker, E.2    Lemmers, R.J.3
  • 73
    • 0026781017 scopus 로고
    • Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter
    • Wijmenga C, Sandkuijl LA, Moerer P, et al. Genetic linkage map of facioscapulohumeral muscular dystrophy and five polymorphic loci on chromosome 4q35-qter. Am J Hum Genet 1992;51:411-5.
    • (1992) Am J Hum Genet , vol.51 , pp. 411-415
    • Wijmenga, C.1    Sandkuijl, L.A.2    Moerer, P.3
  • 74
    • 0029984970 scopus 로고    scopus 로고
    • Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy
    • The FSH-DY group
    • Tawil R, Forrester J, Griggs RC, et al. Evidence for anticipation and association of deletion size with severity in facioscapulohumeral muscular dystrophy. The FSH-DY group. Ann Neurol 1996;39:744-8.
    • (1996) Ann Neurol , vol.39 , pp. 744-748
    • Tawil, R.1    Forrester, J.2    Griggs, R.C.3
  • 75
    • 0034882438 scopus 로고    scopus 로고
    • Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy
    • Flanigan KM, Coffeen CM, Sexton L, et al. Genetic characterization of a large, historically significant Utah kindred with facioscapulohumeral dystrophy. Neuromuscul Disord 2001;11:525-9.
    • (2001) Neuromuscul Disord , vol.11 , pp. 525-529
    • Flanigan, K.M.1    Coffeen, C.M.2    Sexton, L.3
  • 76
    • 0030909143 scopus 로고    scopus 로고
    • Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): Validation of the differential double digestion for FSHD
    • Upadhyaya M, Maynard J, Rogers MT, et al. Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD. J Med Genet 1997;34:476-9.
    • (1997) J Med Genet , vol.34 , pp. 476-479
    • Upadhyaya, M.1    Maynard, J.2    Rogers, M.T.3
  • 77
    • 0031915927 scopus 로고    scopus 로고
    • Facioscapulohumeral dystrophy: A distinct regional myopathy with a novel molecular pathogenesis
    • FSH Consortium
    • Tawil R, Figlewicz DA, Griggs RC, et al. Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. Ann Neurol 1998;43:279-82.
    • (1998) Ann Neurol , vol.43 , pp. 279-282
    • Tawil, R.1    Figlewicz, D.A.2    Griggs, R.C.3
  • 78
    • 0034213873 scopus 로고    scopus 로고
    • Emery-Dreifuss muscular dystrophy - A 40 year retrospective
    • Emery AE. Emery-Dreifuss muscular dystrophy - a 40 year retrospective. Neuromuscul Disord 2000;10:228-32.
    • (2000) Neuromuscul Disord , vol.10 , pp. 228-232
    • Emery, A.E.1
  • 79
    • 0010397284 scopus 로고    scopus 로고
    • The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
    • Manilal S, Nguyen TM, Sewry CA, et al. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 1996;5:801-8.
    • (1996) Hum Mol Genet , vol.5 , pp. 801-808
    • Manilal, S.1    Nguyen, T.M.2    Sewry, C.A.3
  • 80
    • 0029874852 scopus 로고    scopus 로고
    • Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
    • Nagano A, Koga R, Ogawa M, et al. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 1996;12:254-9.
    • (1996) Nat Genet , vol.12 , pp. 254-259
    • Nagano, A.1    Koga, R.2    Ogawa, M.3
  • 81
    • 0032977685 scopus 로고    scopus 로고
    • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
    • Bonne G, Di Barletta MR, Varnous S, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999;21:285-8.
    • (1999) Nat Genet , vol.21 , pp. 285-288
    • Bonne, G.1    Di Barletta, M.R.2    Varnous, S.3
  • 82
    • 0035100386 scopus 로고    scopus 로고
    • Oculopharyngeal muscular dystrophy: Phenotypic and genotypic studies in a UK population
    • Hill ME, Creed GA, McMullan TFW, et al. Oculopharyngeal muscular dystrophy: Phenotypic and genotypic studies in a UK population. Brain 2001;124:522-6.
    • (2001) Brain , vol.124 , pp. 522-526
    • Hill, M.E.1    Creed, G.A.2    McMullan, T.F.W.3
  • 83
    • 0018865908 scopus 로고
    • Nuclear inclusions in oculopharyngeal dystrophy
    • Tome FM, Fardeau M. Nuclear inclusions in oculopharyngeal dystrophy. Acta Neuropathol 1980;49:85-7.
    • (1980) Acta Neuropathol , vol.49 , pp. 85-87
    • Tome, F.M.1    Fardeau, M.2
  • 84
    • 17344371397 scopus 로고    scopus 로고
    • Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy
    • Brais B, Bouchard JP, Xie YG, et al. Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet 1998;18:164-7.
    • (1998) Nat Genet , vol.18 , pp. 164-167
    • Brais, B.1    Bouchard, J.P.2    Xie, Y.G.3
  • 85
    • 0034043493 scopus 로고    scopus 로고
    • Triplet repeat expansion in neuromuscular disease
    • Lieberman AP, Fischbeck KH. Triplet repeat expansion in neuromuscular disease. Muscle Nerve 2000;23:843-50.
    • (2000) Muscle Nerve , vol.23 , pp. 843-850
    • Lieberman, A.P.1    Fischbeck, K.H.2
  • 86
    • 0034703413 scopus 로고    scopus 로고
    • Nuclear inclustions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA
    • Calado A, Tome FM, Brais B, et al. Nuclear inclustions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum Mol Genet 2000;9:2321-8.
    • (2000) Hum Mol Genet , vol.9 , pp. 2321-2328
    • Calado, A.1    Tome, F.M.2    Brais, B.3
  • 87
    • 0002642970 scopus 로고    scopus 로고
    • Myotonic Dystrophy
    • Neuromuscular Diseases: From Basic Mechanisms to Clinical Management. Deymeer F (ed). Basal, Karger
    • Moxley RT, Meda G. Myotonic Dystrophy. In: Neuromuscular Diseases: From Basic Mechanisms to Clinical Management. Deymeer F (ed). Monogr Clin Neurosci. Basal, Karger, 2000, vol. 18, pp. 61-78.
    • (2000) Monogr Clin Neurosci , vol.18 , pp. 61-78
    • Moxley, R.T.1    Meda, G.2
  • 88
    • 0027940625 scopus 로고
    • Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy
    • Roig M, Balliu PR, Navarro C, et al. Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy. Pediatr Neurol 1994;11:208-13.
    • (1994) Pediatr Neurol , vol.11 , pp. 208-213
    • Roig, M.1    Balliu, P.R.2    Navarro, C.3
  • 89
    • 0028213423 scopus 로고
    • Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification
    • Turnpenny P, Clark C, Kelly K. Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. J Med Genet 1994;31:300-5.
    • (1994) J Med Genet , vol.31 , pp. 300-305
    • Turnpenny, P.1    Clark, C.2    Kelly, K.3
  • 91
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
    • Brook JD, McCurrach ME, Harley HG, et al. Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3
  • 92
    • 0026598119 scopus 로고
    • An unstable triplet repeat in a gene related to myotonic muscular dystrophy
    • Fu YH, Pizzuti A, Fenwick Jr. RG, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;255:1256-8.
    • (1992) Science , vol.255 , pp. 1256-1258
    • Fu, Y.H.1    Pizzuti, A.2    Fenwick R.G., Jr.3
  • 93
    • 0026603841 scopus 로고
    • Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene
    • Mahadevan M, Tsilfidis C, Sabourin L, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992;255:1253-8.
    • (1992) Science , vol.255 , pp. 1253-1258
    • Mahadevan, M.1    Tsilfidis, C.2    Sabourin, L.3
  • 94
    • 0027372107 scopus 로고
    • Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy
    • Carango P, Noble JE, Marks HG, et al. Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy. Genomics 1993;18:340-8.
    • (1993) Genomics , vol.18 , pp. 340-348
    • Carango, P.1    Noble, J.E.2    Marks, H.G.3
  • 95
    • 0035503521 scopus 로고    scopus 로고
    • Myotonic dystrophy - A multigene disorder
    • Larkin K, Fardaei M. Myotonic dystrophy - a multigene disorder. Brain Res Bull 2001;56:389-95.
    • (2001) Brain Res Bull , vol.56 , pp. 389-395
    • Larkin, K.1    Fardaei, M.2
  • 96
    • 0001125916 scopus 로고    scopus 로고
    • New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)
    • Consortium TIMD. New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). Neurology 2000;54:1218-21.
    • (2000) Neurology , vol.54 , pp. 1218-1221
  • 97
    • 0002025927 scopus 로고    scopus 로고
    • Myotonic dystrophy as a trinucleotide repeat disorder - A clinical perspective
    • Wells RD, Warren ST (eds). San Diego, Academic Press
    • Harper PS. Myotonic dystrophy as a trinucleotide repeat disorder - A clinical perspective. In: Wells RD, Warren ST (eds). Genetic Instabilities and Hereditary Neurological Diseases. San Diego, Academic Press, 1998, pp. 115-130.
    • (1998) Genetic Instabilities and Hereditary Neurological Diseases , pp. 115-130
    • Harper, P.S.1
  • 98
    • 0027982349 scopus 로고
    • Proximal myotonic myopathy: A new dominant disorder with myotonia, muscle weakness, and cataracts
    • Ricker K, Koch MC, Lehmann-Horn F, et al. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994;44:1448-52.
    • (1994) Neurology , vol.44 , pp. 1448-1452
    • Ricker, K.1    Koch, M.C.2    Lehmann-Horn, F.3
  • 99
    • 0032462743 scopus 로고    scopus 로고
    • PROMM in Italy: Clinical and biomolecular findings
    • Meola G, Sansone V, Rotondo G, et al. PROMM in Italy: clinical and biomolecular findings. Acta Myol. 1998;2:21-6.
    • (1998) Acta Myol , vol.2 , pp. 21-26
    • Meola, G.1    Sansone, V.2    Rotondo, G.3
  • 100
    • 0031000214 scopus 로고    scopus 로고
    • Proximal myotonic dystrophy - A family with autosomal dominant muscular dypstrophy, cataracts, hearing loss and hypogonadism: Heterogeneity of proximal myotonic syndromes?
    • Udd B, Krahe R, Wallgren-Pettersson C, et al. Proximal myotonic dystrophy - a family with autosomal dominant muscular dypstrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? Neuromusc Disord 1997;7:217-28.
    • (1997) Neuromusc Disord , vol.7 , pp. 217-228
    • Udd, B.1    Krahe, R.2    Wallgren-Pettersson, C.3
  • 101
    • 0035800434 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
    • Liquori CL, Ricker K, Moseley ML, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001;293:864-7.
    • (2001) Science , vol.293 , pp. 864-867
    • Liquori, C.L.1    Ricker, K.2    Moseley, M.L.3
  • 102
    • 0032995065 scopus 로고    scopus 로고
    • Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2)
    • Day JW, Roelofs R, Leroy B, et al. Clinical and genetic characteristics of a five-generation family with a novel form of myotonic dystrophy (DM2). Neuromusc Disord 1999;9:19-27.
    • (1999) Neuromusc Disord , vol.9 , pp. 19-27
    • Day, J.W.1    Roelofs, R.2    Leroy, B.3
  • 103
    • 0033846806 scopus 로고    scopus 로고
    • Proximal myotonic myopathy: Evidence for anticipation in families with linkage to chromosome 3q
    • Schneider C, Ziegler A, Ricker K, et al. Proximal myotonic myopathy: Evidence for anticipation in families with linkage to chromosome 3q. Neurology 55, 2000.
    • (2000) Neurology , pp. 55
    • Schneider, C.1    Ziegler, A.2    Ricker, K.3
  • 104
    • 18244375299 scopus 로고    scopus 로고
    • Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
    • Brockington M, Yuva Y, Prandini P, et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 2001;10:2851-9.
    • (2001) Hum Mol Genet , vol.10 , pp. 2851-2859
    • Brockington, M.1    Yuva, Y.2    Prandini, P.3
  • 105
    • 0034795554 scopus 로고    scopus 로고
    • The expanding phenotype of laminin α2 chain (merosin) abnormalities: Case series and review
    • Jones KJ, Morgan G, Johnston H, et al. The expanding phenotype of laminin α2 chain (merosin) abnormalities: case series and review. J Med Genet 2001;38:649-57.
    • (2001) J Med Genet , vol.38 , pp. 649-657
    • Jones, K.J.1    Morgan, G.2    Johnston, H.3
  • 106
    • 0028232215 scopus 로고
    • Congenital muscular dystrophy with merosin deficiency
    • Tome FM, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 1994;317:351-7.
    • (1994) C R Acad Sci III , vol.317 , pp. 351-357
    • Tome, F.M.1    Evangelista, T.2    Leclerc, A.3
  • 107
    • 0028980027 scopus 로고
    • Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congential muscular dystrophy
    • Helbling-Leclerc A, Zhang X, Topaloglu H, et al. Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congential muscular dystrophy. Nat Genet 1995;11:216-8.
    • (1995) Nat Genet , vol.11 , pp. 216-218
    • Helbling-Leclerc, A.1    Zhang, X.2    Topaloglu, H.3
  • 108
    • 0028788685 scopus 로고
    • Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy
    • Shorer Z, Philpot J, Muntoni F, et al. Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy. J Child Neurol 1995;10:472-5.
    • (1995) J Child Neurol , vol.10 , pp. 472-475
    • Shorer, Z.1    Philpot, J.2    Muntoni, F.3
  • 109
    • 0035921981 scopus 로고    scopus 로고
    • An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy
    • Moll J, Barzaghi P, Lin S, et al. An agrin minigene rescues dystrophic symptoms in a mouse model for congenital muscular dystrophy. Nature 2001;413:302-7.
    • (2001) Nature , vol.413 , pp. 302-307
    • Moll, J.1    Barzaghi, P.2    Lin, S.3
  • 110
    • 0034162666 scopus 로고    scopus 로고
    • The Fukuyama congenital muscular dystrophy story
    • Toda T, Kobayashi K, Kondo-Iida E, et al. The Fukuyama congenital muscular dystrophy story. Neuromusc Disord 2000;10:153-9.
    • (2000) Neuromusc Disord , vol.10 , pp. 153-159
    • Toda, T.1    Kobayashi, K.2    Kondo-Iida, E.3
  • 111
    • 0019471880 scopus 로고
    • Congenital muscular dystrophy of the Fukuyama type-clinical, genetic and pathological considerations
    • Fukuyama Y, Osawa M, Suzuki H. Congenital muscular dystrophy of the Fukuyama type-clinical, genetic and pathological considerations. Brain Dev 1981;3:1-29.
    • (1981) Brain Dev , vol.3 , pp. 1-29
    • Fukuyama, Y.1    Osawa, M.2    Suzuki, H.3
  • 112
    • 0032560851 scopus 로고    scopus 로고
    • An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy
    • Kobayashi K, Nakahori Y, Miyake M, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 1998;394:388-92.
    • (1998) Nature , vol.394 , pp. 388-392
    • Kobayashi, K.1    Nakahori, Y.2    Miyake, M.3
  • 113
    • 0035838362 scopus 로고    scopus 로고
    • Selective deficiency of α-dystroglycan in Fukuyama-type congenital muscular dystrophy
    • Hayashi YK, Ogawa M, Tagawa K, et al. Selective deficiency of α-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology 2001;57:115-21.
    • (2001) Neurology , vol.57 , pp. 115-121
    • Hayashi, Y.K.1    Ogawa, M.2    Tagawa, K.3
  • 114
    • 0035942359 scopus 로고    scopus 로고
    • Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease
    • Cormand B, Pihko H, Bayes M, et al. Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain disease. Neurology 2001;56:1059-69.
    • (2001) Neurology , vol.56 , pp. 1059-1069
    • Cormand, B.1    Pihko, H.2    Bayes, M.3
  • 115
    • 18044400450 scopus 로고    scopus 로고
    • Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1
    • Yoshida A, Kobayashi K, Manya H, et al. Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 2001;1:717-24.
    • (2001) Dev Cell , vol.1 , pp. 717-724
    • Yoshida, A.1    Kobayashi, K.2    Manya, H.3
  • 116
    • 0345196592 scopus 로고    scopus 로고
    • Bethlem myopathy: A slowly progressive congenital muscular dystrophy with contractures
    • Jobsis GJ, Boers JM, Barth PG, et al. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain 1999;122:649-55.
    • (1999) Brain , vol.122 , pp. 649-655
    • Jobsis, G.J.1    Boers, J.M.2    Barth, P.G.3
  • 117
    • 0010874473 scopus 로고    scopus 로고
    • Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations
    • In press
    • Lamande SR, Morgelins M, Selan C, et al. Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations. J Biol Chem 2001; In press.
    • (2001) J Biol Chem
    • Lamande, S.R.1    Morgelins, M.2    Selan, C.3
  • 118
    • 0037176883 scopus 로고    scopus 로고
    • Novel mutations in collagen VI genes: Expansion of the Bethlem myopathy phenotype
    • Scacheri PC, Gillanders EM, Subramony SH, et al. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Neurology 2002;58:593-602.
    • (2002) Neurology , vol.58 , pp. 593-602
    • Scacheri, P.C.1    Gillanders, E.M.2    Subramony, S.H.3
  • 119
    • 0035912809 scopus 로고    scopus 로고
    • Ullrich sleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI
    • Vanegas OC, Bertini E, Zhang R-Z, et al. Ullrich sleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA 2001;98:7516-21.
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 7516-7521
    • Vanegas, O.C.1    Bertini, E.2    Zhang, R.-Z.3
  • 120
    • 0033971244 scopus 로고    scopus 로고
    • Congenital muscular dystrophy with rigid spine syndrome: A clinical, pathological, radiological and genetic study
    • Flanigan KM, Kerr L, Bromberg MB, et al. Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological and genetic study. Ann Neurol 2000;47:152-61.
    • (2000) Ann Neurol , vol.47 , pp. 152-161
    • Flanigan, K.M.1    Kerr, L.2    Bromberg, M.B.3
  • 121
    • 17944367320 scopus 로고    scopus 로고
    • Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome
    • Moghadaszadeh B, Petit N, Jaillard C, et al. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet 2001;29:17-8.
    • (2001) Nat Genet , vol.29 , pp. 17-18
    • Moghadaszadeh, B.1    Petit, N.2    Jaillard, C.3
  • 122
    • 0024562039 scopus 로고
    • Central core diseases: Ultrastructure of the sarcoplasmic reticulum and T-tubules
    • Hayashi K, Miller RG, Brownell AK. Central core diseases: ultrastructure of the sarcoplasmic reticulum and T-tubules. Muscle Nerve 1989;12:95-102.
    • (1989) Muscle Nerve , vol.12 , pp. 95-102
    • Hayashi, K.1    Miller, R.G.2    Brownell, A.K.3
  • 123
    • 0027250785 scopus 로고
    • Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
    • Quane KA, Healy JM, Keating KE, et al. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet 1993;5:51-5.
    • (1993) Nat Genet , vol.5 , pp. 51-55
    • Quane, K.A.1    Healy, J.M.2    Keating, K.E.3
  • 124
    • 0027291158 scopus 로고
    • A mutation in the human ryanodine receptor gene associated with central core disease
    • Zhang Y, Chen HS, Khanna VK, et al. A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet 1993;5:46-50.
    • (1993) Nat Genet , vol.5 , pp. 46-50
    • Zhang, Y.1    Chen, H.S.2    Khanna, V.K.3
  • 125
    • 0032076905 scopus 로고    scopus 로고
    • Malignant hyperthermia and central core disease: Disorders of Ca2+ release channels
    • Loke J, MacLennan DH. Malignant hyperthermia and central core disease: disorders of Ca2+ release channels. Am J Med 1998;104:470-86.
    • (1998) Am J Med , vol.104 , pp. 470-486
    • Loke, J.1    MacLennan, D.H.2
  • 126
    • 0034087446 scopus 로고    scopus 로고
    • Ryanodine receptor mutations in malignant hyperthermia and central core disease
    • McCarthy TV, Quane KA, Lynch PJ. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat 2000;15:410-7.
    • (2000) Hum Mutat , vol.15 , pp. 410-417
    • McCarthy, T.V.1    Quane, K.A.2    Lynch, P.J.3
  • 127
    • 0013865106 scopus 로고
    • Myotubular myopathy. Persistence of fetal muscle in an adolescent boy
    • Spiro AJ, Shy GM, Gonatas NK. Myotubular myopathy. Persistence of fetal muscle in an adolescent boy. Arch Neurol 1966;14:1-14.
    • (1966) Arch Neurol , vol.14 , pp. 1-14
    • Spiro, A.J.1    Shy, G.M.2    Gonatas, N.K.3
  • 128
    • 9044222886 scopus 로고    scopus 로고
    • A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
    • Laporte J, Hu LJ, Kretz C, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996;13:175-82.
    • (1996) Nat Genet , vol.13 , pp. 175-182
    • Laporte, J.1    Hu, L.J.2    Kretz, C.3
  • 129
    • 0034244437 scopus 로고    scopus 로고
    • Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate
    • Taylor GS, Maehama T, Dixon JE. Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Proc Nat Acad Sci 2000;97:8910-5.
    • (2000) Proc Nat Acad Sci , vol.97 , pp. 8910-8915
    • Taylor, G.S.1    Maehama, T.2    Dixon, J.E.3
  • 130
    • 0014785852 scopus 로고
    • Type I muscle fibre atrophy and central nuclei: A rare familial neuromuscular disease
    • Karpati G, Carpenter S, Nelson RF. Type I muscle fibre atrophy and central nuclei: A rare familial neuromuscular disease. J Neurol Sci 1970;10:489.
    • (1970) J Neurol Sci , vol.10 , pp. 489
    • Karpati, G.1    Carpenter, S.2    Nelson, R.F.3
  • 131
    • 0033784271 scopus 로고    scopus 로고
    • Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy
    • Kerst B, Mennerich D, Schuelke M, et al. Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy. Neuromuscul Disord 2000;10:572-7.
    • (2000) Neuromuscul Disord , vol.10 , pp. 572-577
    • Kerst, B.1    Mennerich, D.2    Schuelke, M.3
  • 132
    • 0029023971 scopus 로고
    • The myotubular myopathies: Differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies
    • Wallergren-Pettersson C, Clarke A, Samson F, et al. The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. J Med Genet 1995;32:673-9.
    • (1995) J Med Genet , vol.32 , pp. 673-679
    • Wallergren-Pettersson, C.1    Clarke, A.2    Samson, F.3
  • 133
    • 0034906020 scopus 로고    scopus 로고
    • Clinical and genetic heterogeneity in nemaline myopathy - A disease of skeletal muscle thin filaments
    • Sanoudou D, Beggs AH. Clinical and genetic heterogeneity in nemaline myopathy-a disease of skeletal muscle thin filaments. Trends Mol Med 2001;7:362-8.
    • (2001) Trends Mol Med , vol.7 , pp. 362-368
    • Sanoudou, D.1    Beggs, A.H.2
  • 134
    • 0034848843 scopus 로고    scopus 로고
    • Nemaline myopathy: A clinical study of 143 cases
    • Ryan MM, Schnell C, Strickland CD, et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 2001;50:312-20.
    • (2001) Ann Neurol , vol.50 , pp. 312-320
    • Ryan, M.M.1    Schnell, C.2    Strickland, C.D.3
  • 135
    • 0034213947 scopus 로고    scopus 로고
    • Report of the 70th ENMC International Workshop: Nemaline myopathy, 11-13 June 1999, Naarden. The Netherlands
    • Wallgren-Pettersson C, Laing NG. Report of the 70th ENMC International Workshop: nemaline myopathy, 11-13 June 1999, Naarden. The Netherlands. Neuromuscul Disord 2000;10:299-306.
    • (2000) Neuromuscul Disord , vol.10 , pp. 299-306
    • Wallgren-Pettersson, C.1    Laing, N.G.2
  • 136
    • 0028852835 scopus 로고
    • A mutation in the alpha-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1
    • Laing NG, Wilton SD, Akkari PA, et al. A mutation in the alpha-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet 1995;9:75-9.
    • (1995) Nat Genet , vol.9 , pp. 75-79
    • Laing, N.G.1    Wilton, S.D.2    Akkari, P.A.3
  • 137
    • 13044312720 scopus 로고    scopus 로고
    • Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy
    • Pelin K, Hilpela P, Donner K, et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci USA 1999;96:2305-10.
    • (1999) Proc Natl Acad Sci USA , vol.96 , pp. 2305-2310
    • Pelin, K.1    Hilpela, P.2    Donner, K.3
  • 138
    • 0032858915 scopus 로고    scopus 로고
    • Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
    • Nowak KJ, Wattanasirichaigoon D, Goebel HH, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 1999;23:208-12.
    • (1999) Nat Genet , vol.23 , pp. 208-212
    • Nowak, K.J.1    Wattanasirichaigoon, D.2    Goebel, H.H.3
  • 139
    • 0001661334 scopus 로고    scopus 로고
    • Mutations in the β-Tropomyosin (TPM2) gene in rare cases of autosomal dominant nemaline myopathy
    • Donner K, Ollikainen M, Pelin K, et al. Mutations in the β-Tropomyosin (TPM2) gene in rare cases of autosomal dominant nemaline myopathy. Neuromusc Disord 2000;10:342-3.
    • (2000) Neuromusc Disord , vol.10 , pp. 342-343
    • Donner, K.1    Ollikainen, M.2    Pelin, K.3
  • 140
    • 0033799745 scopus 로고    scopus 로고
    • A novel nemaline myopathy in the Amish caused by a mutation in troponin TI
    • Johnston JJ, Kelley RI, Crawford TO, et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin TI. Am J Hum Genet 2000;67:814-21.
    • (2000) Am J Hum Genet , vol.67 , pp. 814-821
    • Johnston, J.J.1    Kelley, R.I.2    Crawford, T.O.3
  • 141
    • 0003132648 scopus 로고
    • Myopathia distalis tarda hereditaria
    • Welander L. Myopathia distalis tarda hereditaria. Acta Med Scand 1951;141:1-24.
    • (1951) Acta Med Scand , vol.141 , pp. 1-24
    • Welander, L.1
  • 142
    • 0031901171 scopus 로고    scopus 로고
    • Overview of distal myopathies: From the clinical to the molecular
    • Barohn RJ, Amato AA, Griggs RC. Overview of distal myopathies: from the clinical to the molecular. Neuromuscul Disord 1998;8:309-16.
    • (1998) Neuromuscul Disord , vol.8 , pp. 309-316
    • Barohn, R.J.1    Amato, A.A.2    Griggs, R.C.3
  • 143
    • 0032880011 scopus 로고    scopus 로고
    • Genetic linkage of Welander distal myopathyto chromosome 2p 13
    • Ahlberg G, von Tell D, Borg K, et al. Genetic linkage of Welander distal myopathyto chromosome 2p 13. Ann Neurol 1999;46:399-404.
    • (1999) Ann Neurol , vol.46 , pp. 399-404
    • Ahlberg, G.1    Von Tell, D.2    Borg, K.3
  • 144
    • 0001566888 scopus 로고    scopus 로고
    • Tibial muscular dystrophy and late-onset distal myopathy are linked to the same locus on chromosome 2q
    • Haravuori H, Mskels-Bengs P, Figlewicz DA, et al. Tibial muscular dystrophy and late-onset distal myopathy are linked to the same locus on chromosome 2q. Neurology 1998;50:A186.
    • (1998) Neurology , vol.50
    • Haravuori, H.1    Mskels-Bengs, P.2    Figlewicz, D.A.3
  • 145
    • 0035707910 scopus 로고    scopus 로고
    • The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin
    • Garvey SM, Chandrika R, Lerner AP, et al. The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin. Genomic 2002;79:146-9.
    • (2002) Genomic , vol.79 , pp. 146-149
    • Garvey, S.M.1    Chandrika, R.2    Lerner, A.P.3
  • 146
    • 0035836751 scopus 로고    scopus 로고
    • Secondary calpain3 deficiency in 2q-linked muscular dystrophy: Titin is the candidate gene
    • Haravuori H, Vihoa A, Straub V, et al. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: Titin is the candidate gene. Neurology 2001;56:869-77.
    • (2001) Neurology , vol.56 , pp. 869-877
    • Haravuori, H.1    Vihoa, A.2    Straub, V.3
  • 148
    • 17944366749 scopus 로고    scopus 로고
    • The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy
    • Eisenberg I, Avidan N, Potikha T, et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 2001;29:83-7.
    • (2001) Nat Genet , vol.29 , pp. 83-87
    • Eisenberg, I.1    Avidan, N.2    Potikha, T.3
  • 149
    • 0036217154 scopus 로고    scopus 로고
    • Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)
    • Kayashima T, Matsuo H, Satoh A, et al. Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). J Hum Genet 2002;47:77-9.
    • (2002) J Hum Genet , vol.47 , pp. 77-79
    • Kayashima, T.1    Matsuo, H.2    Satoh, A.3
  • 150
    • 0033377221 scopus 로고    scopus 로고
    • Distal myopathies
    • Nonaka I. Distal myopathies. Curr Opin Neurol 1999;12:493-9.
    • (1999) Curr Opin Neurol , vol.12 , pp. 493-499
    • Nonaka, I.1
  • 151
    • 0024537024 scopus 로고
    • Distal myopathy with rimmed vacuole formation. A follow-up study
    • Sunohara N, Nonaka I, Kamei N, et al. Distal myopathy with rimmed vacuole formation. A follow-up study. Brain 1989;112:65-83.
    • (1989) Brain , vol.112 , pp. 65-83
    • Sunohara, N.1    Nonaka, I.2    Kamei, N.3
  • 152
    • 0035144844 scopus 로고    scopus 로고
    • Autosomal dominant distal myopathy: Further evidence of a chromosome 14 locus
    • Voit T, Kutz P, Leube B, et al. Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus. Neuromusc Disord 2001;11-9.
    • (2001) Neuromusc Disord , pp. 11-19
    • Voit, T.1    Kutz, P.2    Leube, B.3
  • 153
    • 0029875349 scopus 로고    scopus 로고
    • Myofibrillary myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases
    • Nakano S, Engel AG, Waclwik AJ, et al. Myofibrillary myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Pathol 1996;55:549-62.
    • (1996) J Neuropathol Exp Pathol , vol.55 , pp. 549-562
    • Nakano, S.1    Engel, A.G.2    Waclwik, A.J.3
  • 154
    • 0018068469 scopus 로고
    • A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy
    • Fardeau M, Godet-Guillain J, Tome FM, et al. [A new familial muscular disorder demonstrated by the intra-sarcoplasmic accumulation of a granulo-filamentous material which is dense on electron microscopy]. Rev Neurol (Paris) 1978;134:411-25.
    • (1978) Rev Neurol (Paris) , vol.134 , pp. 411-425
    • Fardeau, M.1    Godet-Guillain, J.2    Tome, F.M.3
  • 155
    • 0034839862 scopus 로고    scopus 로고
    • Desmin-related myopathies in mice and man
    • Carlsson L, Thornell LE. Desmin-related myopathies in mice and man. Acta Physiol Scand 2001;171:341-8.
    • (2001) Acta Physiol Scand , vol.171 , pp. 341-348
    • Carlsson, L.1    Thornell, L.E.2
  • 156
    • 17344361902 scopus 로고    scopus 로고
    • A missense mutation in the αβ-crystallin chaperone gene causes a desmin-related myopathy
    • Vicart P, Caron A, Guicheney P, et al. A missense mutation in the αβ-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998;20:92-5.
    • (1998) Nat Genet , vol.20 , pp. 92-95
    • Vicart, P.1    Caron, A.2    Guicheney, P.3
  • 157
    • 17344373157 scopus 로고    scopus 로고
    • Missense mutations in desmin associated with familial cardiac and skeletal myopathy
    • Goldfarb LG, Park KY, Cervenakova L, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998;19:402-3.
    • (1998) Nat Genet , vol.19 , pp. 402-403
    • Goldfarb, L.G.1    Park, K.Y.2    Cervenakova, L.3
  • 158
    • 0034673647 scopus 로고    scopus 로고
    • Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene
    • Dalakas MC, Park KY, Semino-Mora C, et al. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 2000;342:770-80.
    • (2000) N Engl J Med , vol.342 , pp. 770-780
    • Dalakas, M.C.1    Park, K.Y.2    Semino-Mora, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.