메뉴 건너뛰기




Volumn 20, Issue 8, 2010, Pages 479-492

Hereditary muscular dystrophies and the heart

Author keywords

Arrhythmia; Cardiomyopathy; Muscular dystrophy; Sudden death; Treatment

Indexed keywords

ALPHA SARCOGLYCAN; BETA ADRENERGIC RECEPTOR BLOCKING AGENT; BETA SARCOGLYCAN; CORTICOSTEROID; DELTA SARCOGLYCAN; DESMIN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DYSTROPHIN; EMERIN; FUKUTIN RELATED PROTEIN; GAMMA SARCOGLYCAN; LAMIN A; LAMIN C; MYOSIN HEAVY CHAIN BETA; MYOTONIC DYSTROPHY PROTEIN KINASE;

EID: 77955267033     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.04.008     Document Type: Review
Times cited : (158)

References (170)
  • 1
    • 84855629812 scopus 로고    scopus 로고
    • OMIM® Online Mendelian Inheritance in Man. Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD).
    • OMIM® Online Mendelian Inheritance in Man. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD).
    • McKusick-Nathans Institute of Genetic Medicine
  • 2
    • 0025998134 scopus 로고
    • Population frequencies of inherited neuromuscular diseases - a world survey
    • Emery A.E. Population frequencies of inherited neuromuscular diseases - a world survey. Neuromuscul Disord 1991, 1:19-29.
    • (1991) Neuromuscul Disord , vol.1 , pp. 19-29
    • Emery, A.E.1
  • 3
    • 0036895043 scopus 로고    scopus 로고
    • Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation
    • Eagle M., Baudouin S.V., Chandler C., Giddings D.R., Bullock R., Bushby K. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord 2002, 12:926-929.
    • (2002) Neuromuscul Disord , vol.12 , pp. 926-929
    • Eagle, M.1    Baudouin, S.V.2    Chandler, C.3    Giddings, D.R.4    Bullock, R.5    Bushby, K.6
  • 4
    • 0025729071 scopus 로고
    • Prevalence and incidence of Becker muscular dystrophy
    • Bushby K.M., Thambyayah M., Gardner-Medwin D. Prevalence and incidence of Becker muscular dystrophy. Lancet 1991, 337:1022-1024.
    • (1991) Lancet , vol.337 , pp. 1022-1024
    • Bushby, K.M.1    Thambyayah, M.2    Gardner-Medwin, D.3
  • 5
    • 0017090370 scopus 로고
    • Clinical studies in benign (Becker type) X-linked muscular dystrophy
    • Emery A.E., Skinner R. Clinical studies in benign (Becker type) X-linked muscular dystrophy. Clin Genet 1976, 10:189-201.
    • (1976) Clin Genet , vol.10 , pp. 189-201
    • Emery, A.E.1    Skinner, R.2
  • 7
    • 0027537918 scopus 로고
    • The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history
    • Bushby K.M., Gardner-Medwin D. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history. J Neurol 1993, 240:98-104.
    • (1993) J Neurol , vol.240 , pp. 98-104
    • Bushby, K.M.1    Gardner-Medwin, D.2
  • 9
    • 0027193330 scopus 로고
    • X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus
    • Towbin J.A., Hejtmancik J.F., Brink P., Gelb B., Zhu X.M., Chamberlain J.S., et al. X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 1993, 87:1854-1865.
    • (1993) Circulation , vol.87 , pp. 1854-1865
    • Towbin, J.A.1    Hejtmancik, J.F.2    Brink, P.3    Gelb, B.4    Zhu, X.M.5    Chamberlain, J.S.6
  • 10
    • 0023718118 scopus 로고
    • An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
    • Monaco A.P., Bertelson C.J., Liechti-Gallati S., Moser H., Kunkel L.M. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988, 2:90-95.
    • (1988) Genomics , vol.2 , pp. 90-95
    • Monaco, A.P.1    Bertelson, C.J.2    Liechti-Gallati, S.3    Moser, H.4    Kunkel, L.M.5
  • 12
    • 67149122523 scopus 로고    scopus 로고
    • Mechanisms of Muscle Degeneration, Regeneration, and Repair in the Muscular Dystrophies
    • Wallace G.Q., McNally E.M. Mechanisms of Muscle Degeneration, Regeneration, and Repair in the Muscular Dystrophies. Annu Rev Physiol 2009, 71:37-57.
    • (2009) Annu Rev Physiol , vol.71 , pp. 37-57
    • Wallace, G.Q.1    McNally, E.M.2
  • 13
    • 0021361231 scopus 로고
    • Cardiac rhythm and conduction in Duchenne's muscular dystrophy: a prospective study of 20 patients
    • Perloff J.K. Cardiac rhythm and conduction in Duchenne's muscular dystrophy: a prospective study of 20 patients. J Am Coll Cardiol 1984, 3:1263-1268.
    • (1984) J Am Coll Cardiol , vol.3 , pp. 1263-1268
    • Perloff, J.K.1
  • 14
    • 0030992974 scopus 로고    scopus 로고
    • Cardiac involvement in progressive muscular dystrophy of the Duchenne type
    • Ishikawa K. Cardiac involvement in progressive muscular dystrophy of the Duchenne type. Jpn Heart J 1997, 38:163-180.
    • (1997) Jpn Heart J , vol.38 , pp. 163-180
    • Ishikawa, K.1
  • 15
    • 0019907223 scopus 로고
    • Cardiac conduction abnormalities in children with Duchenne's progressive muscular dystrophy: electrocardiographic features and morphologic correlates
    • Sanyal S.K., Johnson W.W. Cardiac conduction abnormalities in children with Duchenne's progressive muscular dystrophy: electrocardiographic features and morphologic correlates. Circulation 1982, 66:853-863.
    • (1982) Circulation , vol.66 , pp. 853-863
    • Sanyal, S.K.1    Johnson, W.W.2
  • 16
    • 0025017751 scopus 로고
    • The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy
    • Nigro G., Comi L.I., Politano L., Bain R.J. The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol 1990, 26:271-277.
    • (1990) Int J Cardiol , vol.26 , pp. 271-277
    • Nigro, G.1    Comi, L.I.2    Politano, L.3    Bain, R.J.4
  • 17
    • 0026440217 scopus 로고
    • The prevalence and prognostic significance of arrhythmias in Duchenne type muscular dystrophy
    • Yanagisawa A., Miyagawa M., Yotsukura M., Tsuya T., Shirato C., Ishihara T., et al. The prevalence and prognostic significance of arrhythmias in Duchenne type muscular dystrophy. Am Heart J 1992, 124:1244-1250.
    • (1992) Am Heart J , vol.124 , pp. 1244-1250
    • Yanagisawa, A.1    Miyagawa, M.2    Yotsukura, M.3    Tsuya, T.4    Shirato, C.5    Ishihara, T.6
  • 18
    • 0027305755 scopus 로고
    • Ventricular arrhythmia in Duchenne muscular dystrophy: prevalence, significance and prognosis
    • Chenard A.A., Becane H.M., Tertrain F., de Kermadec J.M., Weiss Y.A. Ventricular arrhythmia in Duchenne muscular dystrophy: prevalence, significance and prognosis. Neuromuscul Disord 1993, 3:201-206.
    • (1993) Neuromuscul Disord , vol.3 , pp. 201-206
    • Chenard, A.A.1    Becane, H.M.2    Tertrain, F.3    de Kermadec, J.M.4    Weiss, Y.A.5
  • 19
    • 33644670773 scopus 로고    scopus 로고
    • Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy
    • American Academy of Pediatrics
    • American Academy of Pediatrics Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. Pediatrics 2005, 116:1569-1573.
    • (2005) Pediatrics , vol.116 , pp. 1569-1573
  • 20
    • 0036532426 scopus 로고    scopus 로고
    • Prognostic value of electrocardiograms, ventricular late potentials, ventricular arrhythmias, and left ventricular systolic dysfunction in patients with Duchenne muscular dystrophy
    • Corrado G., Lissoni A., Beretta S., Terenghi L., Tadeo G., Foglia-Manzillo G., et al. Prognostic value of electrocardiograms, ventricular late potentials, ventricular arrhythmias, and left ventricular systolic dysfunction in patients with Duchenne muscular dystrophy. Am J Cardiol 2002, 89:838-841.
    • (2002) Am J Cardiol , vol.89 , pp. 838-841
    • Corrado, G.1    Lissoni, A.2    Beretta, S.3    Terenghi, L.4    Tadeo, G.5    Foglia-Manzillo, G.6
  • 21
    • 14844318046 scopus 로고    scopus 로고
    • Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy
    • Duboc D., Meune C., Lerebours G., Devaux J.Y., Vaksmann G., Becane H.M. Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy. J Am Coll Cardiol 2005, 45:855-857.
    • (2005) J Am Coll Cardiol , vol.45 , pp. 855-857
    • Duboc, D.1    Meune, C.2    Lerebours, G.3    Devaux, J.Y.4    Vaksmann, G.5    Becane, H.M.6
  • 22
    • 34547934811 scopus 로고    scopus 로고
    • Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up
    • Duboc D., Meune C., Pierre B., Wahbi K., Eymard B., Toutain A., et al. Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years' follow-up. Am Heart J 2007, 154:596-602.
    • (2007) Am Heart J , vol.154 , pp. 596-602
    • Duboc, D.1    Meune, C.2    Pierre, B.3    Wahbi, K.4    Eymard, B.5    Toutain, A.6
  • 23
    • 33846946114 scopus 로고    scopus 로고
    • Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states
    • Cohn R.D., van Erp C., Habashi J.P., Soleimani A.A., Klein E.C., Lisi M.T., et al. Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med 2007, 13:204-210.
    • (2007) Nat Med , vol.13 , pp. 204-210
    • Cohn, R.D.1    van Erp, C.2    Habashi, J.P.3    Soleimani, A.A.4    Klein, E.C.5    Lisi, M.T.6
  • 24
    • 33846989762 scopus 로고    scopus 로고
    • ACE inhibitor bulks up muscle
    • Chamberlain J.S. ACE inhibitor bulks up muscle. Nat Med 2007, 13:125-126.
    • (2007) Nat Med , vol.13 , pp. 125-126
    • Chamberlain, J.S.1
  • 25
    • 0026785785 scopus 로고
    • Subclinical cardiomyopathy in Becker muscular dystrophy
    • Steare S.E., Dubowitz V., Benatar A. Subclinical cardiomyopathy in Becker muscular dystrophy. Br Heart J 1992, 68:304-308.
    • (1992) Br Heart J , vol.68 , pp. 304-308
    • Steare, S.E.1    Dubowitz, V.2    Benatar, A.3
  • 28
    • 8044224015 scopus 로고    scopus 로고
    • Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy
    • Melacini P., Fanin M., Danieli G.A., Villanova C., Martinello F., Miorin M., et al. Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy. Circulation 1996, 94:3168-3175.
    • (1996) Circulation , vol.94 , pp. 3168-3175
    • Melacini, P.1    Fanin, M.2    Danieli, G.A.3    Villanova, C.4    Martinello, F.5    Miorin, M.6
  • 29
    • 0037304994 scopus 로고    scopus 로고
    • 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands
    • Bushby K., Muntoni F., Bourke J.P. 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands. Neuromuscul Disord 2003, 13:166-172.
    • (2003) Neuromuscul Disord , vol.13 , pp. 166-172
    • Bushby, K.1    Muntoni, F.2    Bourke, J.P.3
  • 30
    • 44349129859 scopus 로고    scopus 로고
    • Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry
    • Connuck D.M., Sleeper L.A., Colan S.D., Cox G.F., Towbin J.A., Lowe A.M., et al. Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry. Am Heart J 2008, 155:998-1005.
    • (2008) Am Heart J , vol.155 , pp. 998-1005
    • Connuck, D.M.1    Sleeper, L.A.2    Colan, S.D.3    Cox, G.F.4    Towbin, J.A.5    Lowe, A.M.6
  • 32
    • 77449132523 scopus 로고    scopus 로고
    • Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in Becker muscular dystrophy
    • Kaspar R.W., Allen H.D., Ray W.C., Alvarez C.E., Kissel J.T., Pestronk A., et al. Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in Becker muscular dystrophy. Circ Cardiovasc Genet 2009, 2:544-551.
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 544-551
    • Kaspar, R.W.1    Allen, H.D.2    Ray, W.C.3    Alvarez, C.E.4    Kissel, J.T.5    Pestronk, A.6
  • 33
    • 0029971310 scopus 로고    scopus 로고
    • Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies
    • Politano L., Nigro V., Nigro G., Petretta V.R., Passamano L., Papparella S., et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996, 275:1335-1338.
    • (1996) JAMA , vol.275 , pp. 1335-1338
    • Politano, L.1    Nigro, V.2    Nigro, G.3    Petretta, V.R.4    Passamano, L.5    Papparella, S.6
  • 34
    • 0037306124 scopus 로고    scopus 로고
    • Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies
    • Nolan M.A., Jones O.D., Pedersen R.L., Johnston H.M. Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies. Neuromuscul Disord 2003, 13:129-132.
    • (2003) Neuromuscul Disord , vol.13 , pp. 129-132
    • Nolan, M.A.1    Jones, O.D.2    Pedersen, R.L.3    Johnston, H.M.4
  • 35
    • 0033583984 scopus 로고    scopus 로고
    • Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study
    • Hoogerwaard E.M., Bakker E., Ippel P.F., Oosterwijk J.C., Majoor-Krakauer D.F., Leschot N.J., et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 1999, 353:2116-2119.
    • (1999) Lancet , vol.353 , pp. 2116-2119
    • Hoogerwaard, E.M.1    Bakker, E.2    Ippel, P.F.3    Oosterwijk, J.C.4    Majoor-Krakauer, D.F.5    Leschot, N.J.6
  • 37
    • 0035089639 scopus 로고    scopus 로고
    • Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls
    • Grain L., Cortina-Borja M., Forfar C., Hilton-Jones D., Hopkin J., Burch M. Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls. Neuromuscul Disord 2001, 11:186-191.
    • (2001) Neuromuscul Disord , vol.11 , pp. 186-191
    • Grain, L.1    Cortina-Borja, M.2    Forfar, C.3    Hilton-Jones, D.4    Hopkin, J.5    Burch, M.6
  • 40
    • 42549155295 scopus 로고    scopus 로고
    • Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland
    • Holloway S.M., Wilcox D.E., Wilcox A., Dean J.C., Berg J.N., Goudie D.R., et al. Life expectancy and death from cardiomyopathy amongst carriers of Duchenne and Becker muscular dystrophy in Scotland. Heart 2008, 94:633-636.
    • (2008) Heart , vol.94 , pp. 633-636
    • Holloway, S.M.1    Wilcox, D.E.2    Wilcox, A.3    Dean, J.C.4    Berg, J.N.5    Goudie, D.R.6
  • 41
    • 0023215347 scopus 로고
    • X-linked dilated cardiomyopathy
    • Berko B.A., Swift M. X-linked dilated cardiomyopathy. N Engl J Med 1987, 316:1186-1191.
    • (1987) N Engl J Med , vol.316 , pp. 1186-1191
    • Berko, B.A.1    Swift, M.2
  • 43
    • 0027985787 scopus 로고
    • Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
    • Bione S., Maestrini E., Rivella S., Mancini M., Regis S., Romeo G., et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994, 8:323-327.
    • (1994) Nat Genet , vol.8 , pp. 323-327
    • Bione, S.1    Maestrini, E.2    Rivella, S.3    Mancini, M.4    Regis, S.5    Romeo, G.6
  • 44
    • 0010397284 scopus 로고    scopus 로고
    • The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
    • Manilal S., Nguyen T.M., Sewry C.A., Morris G.E. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 1996, 5:801-808.
    • (1996) Hum Mol Genet , vol.5 , pp. 801-808
    • Manilal, S.1    Nguyen, T.M.2    Sewry, C.A.3    Morris, G.E.4
  • 45
    • 0029874852 scopus 로고    scopus 로고
    • Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
    • Nagano A., Koga R., Ogawa M., Kurano Y., Kawada J., Okada R., et al. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 1996, 12:254-259.
    • (1996) Nat Genet , vol.12 , pp. 254-259
    • Nagano, A.1    Koga, R.2    Ogawa, M.3    Kurano, Y.4    Kawada, J.5    Okada, R.6
  • 46
    • 7144256260 scopus 로고    scopus 로고
    • Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression
    • Manilal S., Recan D., Sewry C.A., Hoeltzenbein M., Llense S., Leturcq F., et al. Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. Hum Mol Genet 1998, 7:855-864.
    • (1998) Hum Mol Genet , vol.7 , pp. 855-864
    • Manilal, S.1    Recan, D.2    Sewry, C.A.3    Hoeltzenbein, M.4    Llense, S.5    Leturcq, F.6
  • 47
    • 0032977685 scopus 로고    scopus 로고
    • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
    • Bonne G., Di Barletta M.R., Varnous S., Becane H.M., Hammouda E.H., Merlini L., et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999, 21:285-288.
    • (1999) Nat Genet , vol.21 , pp. 285-288
    • Bonne, G.1    Di Barletta, M.R.2    Varnous, S.3    Becane, H.M.4    Hammouda, E.H.5    Merlini, L.6
  • 48
    • 0033927867 scopus 로고    scopus 로고
    • Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
    • Raffaele Di Barletta M., Ricci E., Galluzzi G., Tonali P., Mora M., Morandi L., et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 2000, 66:1407-1412.
    • (2000) Am J Hum Genet , vol.66 , pp. 1407-1412
    • Raffaele Di Barletta, M.1    Ricci, E.2    Galluzzi, G.3    Tonali, P.4    Mora, M.5    Morandi, L.6
  • 49
    • 6944238642 scopus 로고    scopus 로고
    • Laminopathies: from the heart of the cell to the clinics
    • Benedetti S., Merlini L. Laminopathies: from the heart of the cell to the clinics. Curr Opin Neurol 2004, 17:553-560.
    • (2004) Curr Opin Neurol , vol.17 , pp. 553-560
    • Benedetti, S.1    Merlini, L.2
  • 50
    • 0033865686 scopus 로고    scopus 로고
    • Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
    • Bonne G., Mercuri E., Muchir A., Urtizberea A., Becane H.M., Recan D., et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 2000, 48:170-180.
    • (2000) Ann Neurol , vol.48 , pp. 170-180
    • Bonne, G.1    Mercuri, E.2    Muchir, A.3    Urtizberea, A.4    Becane, H.M.5    Recan, D.6
  • 51
    • 0032901402 scopus 로고    scopus 로고
    • Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy
    • Manilal S., Sewry C.A., Pereboev A., Man N., Gobbi P., Hawkes S., et al. Distribution of emerin and lamins in the heart and implications for Emery-Dreifuss muscular dystrophy. Hum Mol Genet 1999, 8:353-359.
    • (1999) Hum Mol Genet , vol.8 , pp. 353-359
    • Manilal, S.1    Sewry, C.A.2    Pereboev, A.3    Man, N.4    Gobbi, P.5    Hawkes, S.6
  • 53
    • 35748935532 scopus 로고    scopus 로고
    • Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity
    • Zhang Q., Bethmann C., Worth N.F., Davies J.D., Wasner C., Feuer A., et al. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 2007, 16:2816-2833.
    • (2007) Hum Mol Genet , vol.16 , pp. 2816-2833
    • Zhang, Q.1    Bethmann, C.2    Worth, N.F.3    Davies, J.D.4    Wasner, C.5    Feuer, A.6
  • 54
    • 0033083786 scopus 로고    scopus 로고
    • Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy
    • Tsuchiya Y., Hase A., Ogawa M., Yorifuji H., Arahata K. Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy. Eur J Biochem 1999, 259:859-865.
    • (1999) Eur J Biochem , vol.259 , pp. 859-865
    • Tsuchiya, Y.1    Hase, A.2    Ogawa, M.3    Yorifuji, H.4    Arahata, K.5
  • 55
    • 24144481867 scopus 로고    scopus 로고
    • Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells
    • Lammerding J., Hsiao J., Schulze P.C., Kozlov S., Stewart C.L., Lee R.T. Abnormal nuclear shape and impaired mechanotransduction in emerin-deficient cells. J Cell Biol 2005, 170:781-791.
    • (2005) J Cell Biol , vol.170 , pp. 781-791
    • Lammerding, J.1    Hsiao, J.2    Schulze, P.C.3    Kozlov, S.4    Stewart, C.L.5    Lee, R.T.6
  • 56
    • 32644441628 scopus 로고    scopus 로고
    • Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration
    • Bakay M., Wang Z., Melcon G., Schiltz L., Xuan J., Zhao P., et al. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain 2006, 129:996-1013.
    • (2006) Brain , vol.129 , pp. 996-1013
    • Bakay, M.1    Wang, Z.2    Melcon, G.3    Schiltz, L.4    Xuan, J.5    Zhao, P.6
  • 57
    • 0016775532 scopus 로고
    • Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease
    • Waters D.D., Nutter D.O., Hopkins L.C., Dorney E.R. Cardiac features of an unusual X-linked humeroperoneal neuromuscular disease. N Engl J Med 1975, 293:1017-1022.
    • (1975) N Engl J Med , vol.293 , pp. 1017-1022
    • Waters, D.D.1    Nutter, D.O.2    Hopkins, L.C.3    Dorney, E.R.4
  • 59
    • 0025806195 scopus 로고
    • Progression of cardiac disease in Emery-Dreifuss muscular dystrophy
    • Bialer M.G., McDaniel N.L., Kelly T.E. Progression of cardiac disease in Emery-Dreifuss muscular dystrophy. Clin Cardiol 1991, 14:411-416.
    • (1991) Clin Cardiol , vol.14 , pp. 411-416
    • Bialer, M.G.1    McDaniel, N.L.2    Kelly, T.E.3
  • 60
    • 0027374149 scopus 로고
    • Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy
    • Fishbein M.C., Siegel R.J., Thompson C.E., Hopkins L.C. Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. Ann Intern Med 1993, 119:900-905.
    • (1993) Ann Intern Med , vol.119 , pp. 900-905
    • Fishbein, M.C.1    Siegel, R.J.2    Thompson, C.E.3    Hopkins, L.C.4
  • 61
    • 0022531566 scopus 로고
    • Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature
    • Merlini L., Granata C., Dominici P., Bonfiglioli S. Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature. Muscle Nerve 1986, 9:481-485.
    • (1986) Muscle Nerve , vol.9 , pp. 481-485
    • Merlini, L.1    Granata, C.2    Dominici, P.3    Bonfiglioli, S.4
  • 62
    • 0032928462 scopus 로고    scopus 로고
    • Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy
    • Funakoshi M., Tsuchiya Y., Arahata K. Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 1999, 9:108-114.
    • (1999) Neuromuscul Disord , vol.9 , pp. 108-114
    • Funakoshi, M.1    Tsuchiya, Y.2    Arahata, K.3
  • 63
    • 0037383576 scopus 로고    scopus 로고
    • Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study
    • Boriani G., Gallina M., Merlini L., Bonne G., Toniolo D., Amati S., et al. Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke 2003, 34:901-908.
    • (2003) Stroke , vol.34 , pp. 901-908
    • Boriani, G.1    Gallina, M.2    Merlini, L.3    Bonne, G.4    Toniolo, D.5    Amati, S.6
  • 64
    • 21544466426 scopus 로고    scopus 로고
    • High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene
    • Sakata K., Shimizu M., Ino H., Yamaguchi M., Terai H., Fujino N., et al. High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. Circulation 2005, 111:3352-3358.
    • (2005) Circulation , vol.111 , pp. 3352-3358
    • Sakata, K.1    Shimizu, M.2    Ino, H.3    Yamaguchi, M.4    Terai, H.5    Fujino, N.6
  • 65
    • 0029994718 scopus 로고    scopus 로고
    • A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement
    • van der Kooi A.J., Ledderhof T.M., de Voogt W.G., Res C.J., Bouwsma G., Troost D., et al. A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. Ann Neurol 1996, 39:636-642.
    • (1996) Ann Neurol , vol.39 , pp. 636-642
    • van der Kooi, A.J.1    Ledderhof, T.M.2    de Voogt, W.G.3    Res, C.J.4    Bouwsma, G.5    Troost, D.6
  • 66
    • 0033518282 scopus 로고    scopus 로고
    • Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
    • Fatkin D., MacRae C., Sasaki T., Wolff M.R., Porcu M., Frenneaux M., et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999, 341:1715-1724.
    • (1999) N Engl J Med , vol.341 , pp. 1715-1724
    • Fatkin, D.1    MacRae, C.2    Sasaki, T.3    Wolff, M.R.4    Porcu, M.5    Frenneaux, M.6
  • 67
    • 0033636387 scopus 로고    scopus 로고
    • High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation
    • Becane H.M., Bonne G., Varnous S., Muchir A., Ortega V., Hammouda E.H., et al. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin Electrophysiol 2000, 23:1661-1666.
    • (2000) Pacing Clin Electrophysiol , vol.23 , pp. 1661-1666
    • Becane, H.M.1    Bonne, G.2    Varnous, S.3    Muchir, A.4    Ortega, V.5    Hammouda, E.H.6
  • 68
    • 0034620567 scopus 로고    scopus 로고
    • Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
    • Brodsky G.L., Muntoni F., Miocic S., Sinagra G., Sewry C., Mestroni L. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 2000, 101:473-476.
    • (2000) Circulation , vol.101 , pp. 473-476
    • Brodsky, G.L.1    Muntoni, F.2    Miocic, S.3    Sinagra, G.4    Sewry, C.5    Mestroni, L.6
  • 69
    • 19944431159 scopus 로고    scopus 로고
    • Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?
    • van Berlo J.H., de Voogt W.G., van der Kooi A.J., van Tintelen J.P., Bonne G., Yaou R.B., et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?. J Mol Med 2005, 83:79-83.
    • (2005) J Mol Med , vol.83 , pp. 79-83
    • van Berlo, J.H.1    de Voogt, W.G.2    van der Kooi, A.J.3    van Tintelen, J.P.4    Bonne, G.5    Yaou, R.B.6
  • 70
    • 30444446953 scopus 로고    scopus 로고
    • Primary prevention of sudden death in patients with lamin A/C gene mutations
    • Meune C., Van Berlo J.H., Anselme F., Bonne G., Pinto Y.M., Duboc D. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 2006, 354:209-210.
    • (2006) N Engl J Med , vol.354 , pp. 209-210
    • Meune, C.1    Van Berlo, J.H.2    Anselme, F.3    Bonne, G.4    Pinto, Y.M.5    Duboc, D.6
  • 72
    • 0005933477 scopus 로고    scopus 로고
    • The limb-girdle muscular dystrophies
    • Royal Society of Medicine Press, London, A.E. Emery (Ed.)
    • Bushby K. The limb-girdle muscular dystrophies. Diagnostic criteria for neuromuscular disorders 1997, 17-22. Royal Society of Medicine Press, London. A.E. Emery (Ed.).
    • (1997) Diagnostic criteria for neuromuscular disorders , pp. 17-22
    • Bushby, K.1
  • 73
    • 10344253781 scopus 로고    scopus 로고
    • The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands
    • van der Kooi A.J., Barth P.G., Busch H.F., de Haan R., Ginjaar H.B., van Essen A.J., et al. The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands. Brain 1996, 119(Pt 5):1471-1480.
    • (1996) Brain , vol.119 , Issue.PART 5 , pp. 1471-1480
    • van der Kooi, A.J.1    Barth, P.G.2    Busch, H.F.3    de Haan, R.4    Ginjaar, H.B.5    van Essen, A.J.6
  • 74
    • 3142717832 scopus 로고    scopus 로고
    • Limb-girdle muscular dystrophies - from genetics to molecular pathology
    • Laval S.H., Bushby K.M. Limb-girdle muscular dystrophies - from genetics to molecular pathology. Neuropathol Appl Neurobiol 2004, 30:91-105.
    • (2004) Neuropathol Appl Neurobiol , vol.30 , pp. 91-105
    • Laval, S.H.1    Bushby, K.M.2
  • 75
    • 0031920515 scopus 로고    scopus 로고
    • Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
    • Minetti C., Sotgia F., Bruno C., Scartezzini P., Broda P., Bado M., et al. Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nat Genet 1998, 18:365-368.
    • (1998) Nat Genet , vol.18 , pp. 365-368
    • Minetti, C.1    Sotgia, F.2    Bruno, C.3    Scartezzini, P.4    Broda, P.5    Bado, M.6
  • 77
    • 0030882270 scopus 로고    scopus 로고
    • Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23
    • Messina D.N., Speer M.C., Pericak-Vance M.A., McNally E.M. Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Am J Hum Genet 1997, 61:909-917.
    • (1997) Am J Hum Genet , vol.61 , pp. 909-917
    • Messina, D.N.1    Speer, M.C.2    Pericak-Vance, M.A.3    McNally, E.M.4
  • 78
    • 0034641599 scopus 로고    scopus 로고
    • Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions
    • Crosbie R.H., Lim L.E., Moore S.A., Hirano M., Hays A.P., Maybaum S.W., et al. Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. Hum Mol Genet 2000, 9:2019-2027.
    • (2000) Hum Mol Genet , vol.9 , pp. 2019-2027
    • Crosbie, R.H.1    Lim, L.E.2    Moore, S.A.3    Hirano, M.4    Hays, A.P.5    Maybaum, S.W.6
  • 79
    • 0032567420 scopus 로고    scopus 로고
    • Assembly of the sarcoglycan complex. Insights for muscular dystrophy
    • Holt K.H., Campbell K.P. Assembly of the sarcoglycan complex. Insights for muscular dystrophy. J Biol Chem 1998, 273:34667-34670.
    • (1998) J Biol Chem , vol.273 , pp. 34667-34670
    • Holt, K.H.1    Campbell, K.P.2
  • 80
  • 81
    • 0031128814 scopus 로고    scopus 로고
    • Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2)
    • Duggan D.J., Manchester D., Stears K.P., Mathews D.J., Hart C., Hoffman E.P. Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). Neurogenetics 1997, 1:49-58.
    • (1997) Neurogenetics , vol.1 , pp. 49-58
    • Duggan, D.J.1    Manchester, D.2    Stears, K.P.3    Mathews, D.J.4    Hart, C.5    Hoffman, E.P.6
  • 82
    • 0033559299 scopus 로고    scopus 로고
    • Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population
    • Vainzof M., Passos-Bueno M.R., Pavanello R.C., Marie S.K., Oliveira A.S., Zatz M. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. J Neurol Sci 1999, 164:44-49.
    • (1999) J Neurol Sci , vol.164 , pp. 44-49
    • Vainzof, M.1    Passos-Bueno, M.R.2    Pavanello, R.C.3    Marie, S.K.4    Oliveira, A.S.5    Zatz, M.6
  • 83
    • 0030951089 scopus 로고    scopus 로고
    • Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy
    • Eymard B., Romero N.B., Leturcq F., Piccolo F., Carrie A., Jeanpierre M., et al. Primary adhalinopathy (alpha-sarcoglycanopathy): clinical, pathologic, and genetic correlation in 20 patients with autosomal recessive muscular dystrophy. Neurology 1997, 48:1227-1234.
    • (1997) Neurology , vol.48 , pp. 1227-1234
    • Eymard, B.1    Romero, N.B.2    Leturcq, F.3    Piccolo, F.4    Carrie, A.5    Jeanpierre, M.6
  • 84
    • 0030792467 scopus 로고    scopus 로고
    • Concomitant deficiency of beta- and gamma-sarcoglycans in 20 alpha-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects
    • Barresi R., Confalonieri V., Lanfossi M., Di Blasi C., Torchiana E., Mantegazza R., et al. Concomitant deficiency of beta- and gamma-sarcoglycans in 20 alpha-sarcoglycan (adhalin)-deficient patients: immunohistochemical analysis and clinical aspects. Acta Neuropathol 1997, 94:28-35.
    • (1997) Acta Neuropathol , vol.94 , pp. 28-35
    • Barresi, R.1    Confalonieri, V.2    Lanfossi, M.3    Di Blasi, C.4    Torchiana, E.5    Mantegazza, R.6
  • 88
    • 0034063935 scopus 로고    scopus 로고
    • Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations
    • Barresi R., Di Blasi C., Negri T., Brugnoni R., Vitali A., Felisari G., et al. Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. J Med Genet 2000, 37:102-107.
    • (2000) J Med Genet , vol.37 , pp. 102-107
    • Barresi, R.1    Di Blasi, C.2    Negri, T.3    Brugnoni, R.4    Vitali, A.5    Felisari, G.6
  • 90
    • 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., Brown S.C., Torelli S., Benson M.A., 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, 10:2851-2859.
    • (2001) Hum Mol Genet , vol.10 , pp. 2851-2859
    • Brockington, M.1    Yuva, Y.2    Prandini, P.3    Brown, S.C.4    Torelli, S.5    Benson, M.A.6
  • 92
  • 93
    • 0037380737 scopus 로고    scopus 로고
    • Phenotypic spectrum associated with mutations in the fukutin-related protein gene
    • Mercuri E., Brockington M., Straub V., Quijano-Roy S., Yuva Y., Herrmann R., et al. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol 2003, 53:537-542.
    • (2003) Ann Neurol , vol.53 , pp. 537-542
    • Mercuri, E.1    Brockington, M.2    Straub, V.3    Quijano-Roy, S.4    Yuva, Y.5    Herrmann, R.6
  • 94
  • 95
    • 28944454254 scopus 로고    scopus 로고
    • Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I
    • Boito C.A., Melacini P., Vianello A., Prandini P., Gavassini B.F., Bagattin A., et al. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Arch Neurol 2005, 62:1894-1899.
    • (2005) Arch Neurol , vol.62 , pp. 1894-1899
    • Boito, C.A.1    Melacini, P.2    Vianello, A.3    Prandini, P.4    Gavassini, B.F.5    Bagattin, A.6
  • 96
    • 51649084872 scopus 로고    scopus 로고
    • Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy
    • Sveen M.L., Thune J.J., Kober L., Vissing J. Cardiac involvement in patients with limb-girdle muscular dystrophy type 2 and Becker muscular dystrophy. Arch Neurol 2008, 65:1196-1201.
    • (2008) Arch Neurol , vol.65 , pp. 1196-1201
    • Sveen, M.L.1    Thune, J.J.2    Kober, L.3    Vissing, J.4
  • 97
    • 48749108191 scopus 로고    scopus 로고
    • Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study
    • Wahbi K., Meune C., Hamouda el H., Stojkovic T., Laforet P., Becane H.M., et al. Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study. Neuromuscul Disord 2008, 18:650-655.
    • (2008) Neuromuscul Disord , vol.18 , pp. 650-655
    • Wahbi, K.1    Meune, C.2    Hamouda el, H.3    Stojkovic, T.4    Laforet, P.5    Becane, H.M.6
  • 98
    • 0032849889 scopus 로고    scopus 로고
    • 66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands
    • Beckmann J.S., Brown R.H., Muntoni F., Urtizberea A., Bonnemann C., Bushby K.M. 66th/67th ENMC sponsored international workshop: The limb-girdle muscular dystrophies, 26-28 March 1999, Naarden, The Netherlands. Neuromuscul Disord 1999, 9:436-445.
    • (1999) Neuromuscul Disord , vol.9 , pp. 436-445
    • Beckmann, J.S.1    Brown, R.H.2    Muntoni, F.3    Urtizberea, A.4    Bonnemann, C.5    Bushby, K.M.6
  • 99
    • 77953466492 scopus 로고    scopus 로고
    • Cardiac diseases in sarcoglycanopathies
    • Fayssoil A. Cardiac diseases in sarcoglycanopathies. Int J Cardiol 2009.
    • (2009) Int J Cardiol
    • Fayssoil, A.1
  • 102
    • 0027485748 scopus 로고
    • Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
    • Harley H.G., Rundle S.A., MacMillan J.C., Myring J., Brook J.D., Crow S., et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 1993, 52:1164-1174.
    • (1993) Am J Hum Genet , vol.52 , pp. 1164-1174
    • Harley, H.G.1    Rundle, S.A.2    MacMillan, J.C.3    Myring, J.4    Brook, J.D.5    Crow, S.6
  • 103
    • 0033549032 scopus 로고    scopus 로고
    • A 10-year study of mortality in a cohort of patients with myotonic dystrophy
    • Mathieu J., Allard P., Potvin L., Prevost C., Begin P. A 10-year study of mortality in a cohort of patients with myotonic dystrophy. Neurology 1999, 52:1658-1662.
    • (1999) Neurology , vol.52 , pp. 1658-1662
    • Mathieu, J.1    Allard, P.2    Potvin, L.3    Prevost, C.4    Begin, P.5
  • 105
    • 45549084293 scopus 로고    scopus 로고
    • Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1
    • Groh W.J., Groh M.R., Saha C., Kincaid J.C., Simmons Z., Ciafaloni E., et al. Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. N Engl J Med 2008, 358:2688-2697.
    • (2008) N Engl J Med , vol.358 , pp. 2688-2697
    • Groh, W.J.1    Groh, M.R.2    Saha, C.3    Kincaid, J.C.4    Simmons, Z.5    Ciafaloni, E.6
  • 107
    • 0033822947 scopus 로고    scopus 로고
    • Progressive atrioventricular conduction block in a mouse myotonic dystrophy model
    • Berul C.I., Maguire C.T., Gehrmann J., Reddy S. Progressive atrioventricular conduction block in a mouse myotonic dystrophy model. J Interv Card Electrophysiol 2000, 4:351-358.
    • (2000) J Interv Card Electrophysiol , vol.4 , pp. 351-358
    • Berul, C.I.1    Maguire, C.T.2    Gehrmann, J.3    Reddy, S.4
  • 108
    • 0030845879 scopus 로고    scopus 로고
    • Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP
    • Klesert T.R., Otten A.D., Bird T.D., Tapscott S.J. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat Genet 1997, 16:402-406.
    • (1997) Nat Genet , vol.16 , pp. 402-406
    • Klesert, T.R.1    Otten, A.D.2    Bird, T.D.3    Tapscott, S.J.4
  • 109
    • 2342461060 scopus 로고    scopus 로고
    • Myotonic dystrophy: RNA pathogenesis comes into focus
    • Ranum L.P., Day J.W. Myotonic dystrophy: RNA pathogenesis comes into focus. Am J Hum Genet 2004, 74:793-804.
    • (2004) Am J Hum Genet , vol.74 , pp. 793-804
    • Ranum, L.P.1    Day, J.W.2
  • 110
    • 65349118185 scopus 로고    scopus 로고
    • Large CTG repeats trigger p16-dependent premature senescence in myotonic dystrophy type 1 muscle precursor cells
    • Bigot A., Klein A.F., Gasnier E., Jacquemin V., Ravassard P., Butler-Browne G., et al. Large CTG repeats trigger p16-dependent premature senescence in myotonic dystrophy type 1 muscle precursor cells. Am J Pathol 2009, 174:1435-1442.
    • (2009) Am J Pathol , vol.174 , pp. 1435-1442
    • Bigot, A.1    Klein, A.F.2    Gasnier, E.3    Jacquemin, V.4    Ravassard, P.5    Butler-Browne, G.6
  • 111
    • 8844224764 scopus 로고    scopus 로고
    • Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1
    • Bassez G., Lazarus A., Desguerre I., Varin J., Laforet P., Becane H.M., et al. Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1. Neurology 2004, 63:1939-1941.
    • (2004) Neurology , vol.63 , pp. 1939-1941
    • Bassez, G.1    Lazarus, A.2    Desguerre, I.3    Varin, J.4    Laforet, P.5    Becane, H.M.6
  • 112
    • 0031022134 scopus 로고    scopus 로고
    • Cardiac disease in myotonic dystrophy
    • Phillips M.F., Harper P.S. Cardiac disease in myotonic dystrophy. Cardiovasc Res 1997, 33:13-22.
    • (1997) Cardiovasc Res , vol.33 , pp. 13-22
    • Phillips, M.F.1    Harper, P.S.2
  • 115
    • 0037032260 scopus 로고    scopus 로고
    • Long-term follow-up of arrhythmias in patients with myotonic dystrophy treated by pacing: a multicenter diagnostic pacemaker study
    • Lazarus A., Varin J., Babuty D., Anselme F., Coste J., Duboc D. Long-term follow-up of arrhythmias in patients with myotonic dystrophy treated by pacing: a multicenter diagnostic pacemaker study. J Am Coll Cardiol 2002, 40:1645-1652.
    • (2002) J Am Coll Cardiol , vol.40 , pp. 1645-1652
    • Lazarus, A.1    Varin, J.2    Babuty, D.3    Anselme, F.4    Coste, J.5    Duboc, D.6
  • 116
    • 0033514985 scopus 로고    scopus 로고
    • Relationships among electrophysiological findings and clinical status, heart function, and extent of DNA mutation in myotonic dystrophy
    • Lazarus A., Varin J., Ounnoughene Z., Radvanyi H., Junien C., Coste J., et al. Relationships among electrophysiological findings and clinical status, heart function, and extent of DNA mutation in myotonic dystrophy. Circulation 1999, 99:1041-1046.
    • (1999) Circulation , vol.99 , pp. 1041-1046
    • Lazarus, A.1    Varin, J.2    Ounnoughene, Z.3    Radvanyi, H.4    Junien, C.5    Coste, J.6
  • 117
    • 0023853927 scopus 로고
    • Pathology of the cardiac conduction system in myotonic dystrophy: a study of 12 cases
    • Nguyen H.H., Wolfe J.T., Holmes D.R., Edwards W.D. Pathology of the cardiac conduction system in myotonic dystrophy: a study of 12 cases. J Am Coll Cardiol 1988, 11:662-671.
    • (1988) J Am Coll Cardiol , vol.11 , pp. 662-671
    • Nguyen, H.H.1    Wolfe, J.T.2    Holmes, D.R.3    Edwards, W.D.4
  • 118
    • 0029147034 scopus 로고
    • Cardiac involvement in patients with myotonic dystrophy: characteristic features of magnetic resonance imaging
    • De Ambroggi L., Raisaro A., Marchiano V., Radice S., Meola G. Cardiac involvement in patients with myotonic dystrophy: characteristic features of magnetic resonance imaging. Eur Heart J 1995, 16:1007-1010.
    • (1995) Eur Heart J , vol.16 , pp. 1007-1010
    • De Ambroggi, L.1    Raisaro, A.2    Marchiano, V.3    Radice, S.4    Meola, G.5
  • 119
    • 0842304407 scopus 로고    scopus 로고
    • Prevalence of structural cardiac abnormalities in patients with myotonic dystrophy type I
    • Bhakta D., Lowe M.R., Groh W.J. Prevalence of structural cardiac abnormalities in patients with myotonic dystrophy type I. Am Heart J 2004, 147:224-227.
    • (2004) Am Heart J , vol.147 , pp. 224-227
    • Bhakta, D.1    Lowe, M.R.2    Groh, W.J.3
  • 121
    • 53749101578 scopus 로고    scopus 로고
    • Sudden death in myotonic dystrophy
    • [author reply 1328-29]
    • Hermans M.C., Faber C.G., Pinto Y.M. Sudden death in myotonic dystrophy. N Engl J Med 2008, 359:1626-1628. [author reply 1328-29].
    • (2008) N Engl J Med , vol.359 , pp. 1626-1628
    • Hermans, M.C.1    Faber, C.G.2    Pinto, Y.M.3
  • 122
    • 0142027590 scopus 로고    scopus 로고
    • Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect
    • Bachinski L.L., Udd B., Meola G., Sansone V., Bassez G., Eymard B., et al. Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet 2003, 73:835-848.
    • (2003) Am J Hum Genet , vol.73 , pp. 835-848
    • Bachinski, L.L.1    Udd, B.2    Meola, G.3    Sansone, V.4    Bassez, G.5    Eymard, B.6
  • 124
    • 8744295714 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2 and related myotonic disorders
    • Meola G., Moxley R.T. Myotonic dystrophy type 2 and related myotonic disorders. J Neurol 2004, 251:1173-1182.
    • (2004) J Neurol , vol.251 , pp. 1173-1182
    • Meola, G.1    Moxley, R.T.2
  • 126
    • 34548072824 scopus 로고    scopus 로고
    • Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2
    • Botta A., Vallo L., Rinaldi F., Bonifazi E., Amati F., Biancolella M., et al. Gene expression analysis in myotonic dystrophy: indications for a common molecular pathogenic pathway in DM1 and DM2. Gene Expr 2007, 13:339-351.
    • (2007) Gene Expr , vol.13 , pp. 339-351
    • Botta, A.1    Vallo, L.2    Rinaldi, F.3    Bonifazi, E.4    Amati, F.5    Biancolella, M.6
  • 127
    • 67649635616 scopus 로고    scopus 로고
    • Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic dystrophy: A case control study
    • Wahbi K., Meune C., Becane H.M., Laforet P., Bassez G., Lazarus A., et al. Left ventricular dysfunction and cardiac arrhythmias are frequent in type 2 myotonic dystrophy: A case control study. Neuromuscul Disord 2009, 19:468-472.
    • (2009) Neuromuscul Disord , vol.19 , pp. 468-472
    • Wahbi, K.1    Meune, C.2    Becane, H.M.3    Laforet, P.4    Bassez, G.5    Lazarus, A.6
  • 130
    • 27644489708 scopus 로고    scopus 로고
    • Female patient with proximal myotonic myopathy and ventricular tachycardia
    • Schenk S., Loscher S., Mickley F., Hartmann A. Female patient with proximal myotonic myopathy and ventricular tachycardia. Z Kardiol 2005, 94:754-760.
    • (2005) Z Kardiol , vol.94 , pp. 754-760
    • Schenk, S.1    Loscher, S.2    Mickley, F.3    Hartmann, A.4
  • 131
    • 33745105633 scopus 로고    scopus 로고
    • 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management
    • Udd B., Meola G., Krahe R., Thornton C., Ranum L.P., Bassez G., et al. 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management. Neuromuscul Disord 2006, 16:403-413.
    • (2006) Neuromuscul Disord , vol.16 , pp. 403-413
    • Udd, B.1    Meola, G.2    Krahe, R.3    Thornton, C.4    Ranum, L.P.5    Bassez, G.6
  • 132
    • 0036049412 scopus 로고    scopus 로고
    • Myotonic dystrophy type 2
    • Finsterer J. Myotonic dystrophy type 2. Eur J Neurol 2002, 9:441-447.
    • (2002) Eur J Neurol , vol.9 , pp. 441-447
    • Finsterer, J.1
  • 134
    • 0036227621 scopus 로고    scopus 로고
    • Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin)
    • Allamand V., Guicheney P. Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). Eur J Hum Genet 2002, 10:91-94.
    • (2002) Eur J Hum Genet , vol.10 , pp. 91-94
    • Allamand, V.1    Guicheney, P.2
  • 137
    • 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 glycosylation of alpha-dystroglycan
    • Brockington M., Blake D.J., Prandini P., Brown S.C., Torelli S., Benson M.A., et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 2001, 69:1198-1209.
    • (2001) Am J Hum Genet , vol.69 , pp. 1198-1209
    • Brockington, M.1    Blake, D.J.2    Prandini, P.3    Brown, S.C.4    Torelli, S.5    Benson, M.A.6
  • 138
    • 0030220589 scopus 로고    scopus 로고
    • 41st ENMC International Workshop on Congenital Muscular Dystrophy 8-10 March 1996, Naarden, The Netherlands
    • Dubowitz V. 41st ENMC International Workshop on Congenital Muscular Dystrophy 8-10 March 1996, Naarden, The Netherlands. Neuromuscul Disord 1996, 6:295-306.
    • (1996) Neuromuscul Disord , vol.6 , pp. 295-306
    • Dubowitz, V.1
  • 139
    • 0031713348 scopus 로고    scopus 로고
    • Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy
    • Spyrou N., Philpot J., Foale R., Camici P.G., Muntoni F. Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy. Am Heart J 1998, 136:474-476.
    • (1998) Am Heart J , vol.136 , pp. 474-476
    • Spyrou, N.1    Philpot, J.2    Foale, R.3    Camici, P.G.4    Muntoni, F.5
  • 140
    • 15844365639 scopus 로고    scopus 로고
    • Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis
    • Fardeau M., Tome F.M., Helbling-Leclerc A., Evangelista T., Ottolini A., Chevallay M., et al. Congenital muscular dystrophy with merosin deficiency: clinical, histopathological, immunocytochemical and genetic analysis. Rev Neurol (Paris) 1996, 152:11-19.
    • (1996) Rev Neurol (Paris) , vol.152 , pp. 11-19
    • Fardeau, M.1    Tome, F.M.2    Helbling-Leclerc, A.3    Evangelista, T.4    Ottolini, A.5    Chevallay, M.6
  • 141
    • 0027688211 scopus 로고
    • The life spans, cause of death and pathological findings of Fukuyama type congenital muscular dystrophy-analysis of 24 autopsy cases
    • Mukoyama M., Hizawa K., Kagawa N., Takahashi K. The life spans, cause of death and pathological findings of Fukuyama type congenital muscular dystrophy-analysis of 24 autopsy cases. Rinsho Shinkeigaku 1993, 33:1154-1156.
    • (1993) Rinsho Shinkeigaku , vol.33 , pp. 1154-1156
    • Mukoyama, M.1    Hizawa, K.2    Kagawa, N.3    Takahashi, K.4
  • 142
    • 0032055028 scopus 로고    scopus 로고
    • 44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies 19-21 July 1996, Naarden, The Netherlands
    • Lunt P.W. 44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies 19-21 July 1996, Naarden, The Netherlands. Neuromuscul Disord 1998, 8:126-130.
    • (1998) Neuromuscul Disord , vol.8 , pp. 126-130
    • Lunt, P.W.1
  • 143
    • 0027744223 scopus 로고
    • FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2kb tandemly repeated unit
    • van Deutekom J.C., Wijmenga C., van Tienhoven E.A., Gruter A.M., Hewitt J.E., Padberg G.W., et al. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2kb tandemly repeated unit. Hum Mol Genet 1993, 2:2037-2042.
    • (1993) Hum Mol Genet , vol.2 , pp. 2037-2042
    • van Deutekom, J.C.1    Wijmenga, C.2    van Tienhoven, E.A.3    Gruter, A.M.4    Hewitt, J.E.5    Padberg, G.W.6
  • 144
    • 0025034639 scopus 로고
    • Facioscapulohumeral muscular dystrophy: evidence for selective, genetic electrophysiologic cardiac involvement
    • Stevenson W.G., Perloff J.K., Weiss J.N., Anderson T.L. Facioscapulohumeral muscular dystrophy: evidence for selective, genetic electrophysiologic cardiac involvement. J Am Coll Cardiol 1990, 15:292-299.
    • (1990) J Am Coll Cardiol , vol.15 , pp. 292-299
    • Stevenson, W.G.1    Perloff, J.K.2    Weiss, J.N.3    Anderson, T.L.4
  • 145
    • 0026546173 scopus 로고
    • The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy
    • de Visser M., de Voogt W.G., la Riviere G.V. The heart in Becker muscular dystrophy, facioscapulohumeral dystrophy, and Bethlem myopathy. Muscle Nerve 1992, 15:591-596.
    • (1992) Muscle Nerve , vol.15 , pp. 591-596
    • de Visser, M.1    de Voogt, W.G.2    la Riviere, G.V.3
  • 146
    • 0031743597 scopus 로고    scopus 로고
    • Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy
    • Laforet P., de Toma C., Eymard B., Becane H.M., Jeanpierre M., Fardeau M., et al. Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy. Neurology 1998, 51:1454-1456.
    • (1998) Neurology , vol.51 , pp. 1454-1456
    • Laforet, P.1    de Toma, C.2    Eymard, B.3    Becane, H.M.4    Jeanpierre, M.5    Fardeau, M.6
  • 148
    • 53549117700 scopus 로고    scopus 로고
    • Myofibrillar myopathies
    • Selcen D. Myofibrillar myopathies. Curr Opin Neurol 2008, 21:585-589.
    • (2008) Curr Opin Neurol , vol.21 , pp. 585-589
    • Selcen, D.1
  • 149
    • 68849104798 scopus 로고    scopus 로고
    • Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease
    • Goldfarb L.G., Dalakas M.C. Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. J Clin Invest 2009, 119:1806-1813.
    • (2009) J Clin Invest , vol.119 , pp. 1806-1813
    • Goldfarb, L.G.1    Dalakas, M.C.2
  • 150
    • 17344361902 scopus 로고    scopus 로고
    • A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy
    • Vicart P., Caron A., Guicheney P., Li Z., Prevost M.C., Faure A., et al. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet 1998, 20:92-95.
    • (1998) Nat Genet , vol.20 , pp. 92-95
    • Vicart, P.1    Caron, A.2    Guicheney, P.3    Li, Z.4    Prevost, M.C.5    Faure, A.6
  • 151
    • 0344664368 scopus 로고    scopus 로고
    • Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations
    • Selcen D., Engel A.G. Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations. Ann Neurol 2003, 54:804-810.
    • (2003) Ann Neurol , vol.54 , pp. 804-810
    • Selcen, D.1    Engel, A.G.2
  • 153
    • 0032701867 scopus 로고    scopus 로고
    • Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q
    • Melberg A., Oldfors A., Blomstrom-Lundqvist C., Stalberg E., Carlsson B., Larrson E., et al. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol 1999, 46:684-692.
    • (1999) Ann Neurol , vol.46 , pp. 684-692
    • Melberg, A.1    Oldfors, A.2    Blomstrom-Lundqvist, C.3    Stalberg, E.4    Carlsson, B.5    Larrson, E.6
  • 155
    • 17044440789 scopus 로고    scopus 로고
    • Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
    • Nishino I., Fu J., Tanji K., Yamada T., Shimojo S., Koori T., et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000, 406:906-910.
    • (2000) Nature , vol.406 , pp. 906-910
    • Nishino, I.1    Fu, J.2    Tanji, K.3    Yamada, T.4    Shimojo, S.5    Koori, T.6
  • 156
    • 0028965355 scopus 로고
    • Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy
    • Murakami N., Goto Y., Itoh M., Katsumi Y., Wada T., Ozawa E., et al. Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy. Neuromuscul Disord 1995, 5:149-155.
    • (1995) Neuromuscul Disord , vol.5 , pp. 149-155
    • Murakami, N.1    Goto, Y.2    Itoh, M.3    Katsumi, Y.4    Wada, T.5    Ozawa, E.6
  • 157
    • 0037172851 scopus 로고    scopus 로고
    • Clinicopathological features of genetically confirmed Danon disease
    • Sugie K., Yamamoto A., Murayama K., Oh S.J., Takahashi M., Mora M., et al. Clinicopathological features of genetically confirmed Danon disease. Neurology 2002, 58:1773-1778.
    • (2002) Neurology , vol.58 , pp. 1773-1778
    • Sugie, K.1    Yamamoto, A.2    Murayama, K.3    Oh, S.J.4    Takahashi, M.5    Mora, M.6
  • 160
    • 38749121773 scopus 로고    scopus 로고
    • An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1
    • Windpassinger C., Schoser B., Straub V., Hochmeister S., Noor A., Lohberger B., et al. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1. Am J Hum Genet 2008, 82:88-99.
    • (2008) Am J Hum Genet , vol.82 , pp. 88-99
    • Windpassinger, C.1    Schoser, B.2    Straub, V.3    Hochmeister, S.4    Noor, A.5    Lohberger, B.6
  • 161
    • 60149106395 scopus 로고    scopus 로고
    • Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1
    • Schessl J., Taratuto A.L., Sewry C., Battini R., Chin S.S., Maiti B., et al. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain 2009, 132:452-464.
    • (2009) Brain , vol.132 , pp. 452-464
    • Schessl, J.1    Taratuto, A.L.2    Sewry, C.3    Battini, R.4    Chin, S.S.5    Maiti, B.6
  • 164
    • 59149107091 scopus 로고    scopus 로고
    • Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation
    • Uro-Coste E., Arne-Bes M.C., Pellissier J.F., Richard P., Levade T., Heitz F., et al. Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation. Neuromuscul Disord 2009, 19:163-166.
    • (2009) Neuromuscul Disord , vol.19 , pp. 163-166
    • Uro-Coste, E.1    Arne-Bes, M.C.2    Pellissier, J.F.3    Richard, P.4    Levade, T.5    Heitz, F.6
  • 165
    • 55349084415 scopus 로고    scopus 로고
    • Update on the management of Duchenne muscular dystrophy
    • Manzur A.Y., Kinali M., Muntoni F. Update on the management of Duchenne muscular dystrophy. Arch Dis Child 2008, 93:986-990.
    • (2008) Arch Dis Child , vol.93 , pp. 986-990
    • Manzur, A.Y.1    Kinali, M.2    Muntoni, F.3
  • 167
    • 0037443583 scopus 로고    scopus 로고
    • Effects of deflazacort on left ventricular function in patients with Duchenne muscular dystrophy
    • Silversides C.K., Webb G.D., Harris V.A., Biggar D.W. Effects of deflazacort on left ventricular function in patients with Duchenne muscular dystrophy. Am J Cardiol 2003, 91:769-772.
    • (2003) Am J Cardiol , vol.91 , pp. 769-772
    • Silversides, C.K.1    Webb, G.D.2    Harris, V.A.3    Biggar, D.W.4
  • 168
    • 66249136309 scopus 로고    scopus 로고
    • Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy
    • Bauer R., Straub V., Blain A., Bushby K., MacGowan G.A. Contrasting effects of steroids and angiotensin-converting-enzyme inhibitors in a mouse model of dystrophin-deficient cardiomyopathy. Eur J Heart Fail 2009, 11:463-471.
    • (2009) Eur J Heart Fail , vol.11 , pp. 463-471
    • Bauer, R.1    Straub, V.2    Blain, A.3    Bushby, K.4    MacGowan, G.A.5
  • 169
    • 36249019783 scopus 로고    scopus 로고
    • New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials
    • Cossu G., Sampaolesi M. New therapies for Duchenne muscular dystrophy: challenges, prospects and clinical trials. Trends Mol Med 2007, 13:520-526.
    • (2007) Trends Mol Med , vol.13 , pp. 520-526
    • Cossu, G.1    Sampaolesi, M.2
  • 170
    • 53049100021 scopus 로고    scopus 로고
    • Myotonic dystrophy: therapeutic strategies for the future
    • Wheeler T.M. Myotonic dystrophy: therapeutic strategies for the future. Neurotherapeutics 2008, 5:592-600.
    • (2008) Neurotherapeutics , vol.5 , pp. 592-600
    • Wheeler, T.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.