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Volumn 32, Issue 5, 2005, Pages 577-588

Cardiac involvement in muscular dystrophies: Molecular mechanisms

Author keywords

Cardiac conduction system disease; Cardiomyopathy; Conduction system disease; Muscular dystrophy; Pathogenesis; Review article

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; CALPAIN; CAVEOLIN 3; CONNECTIN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DYSFERLIN; DYSTROGLYCAN; DYSTROPHIN; EMERIN; LAMIN A; LAMIN C; MEMBRANE PROTEIN; MEROSIN; NUCLEAR PROTEIN; SARCOGLYCAN; SCLEROPROTEIN;

EID: 27144512277     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.20352     Document Type: Review
Times cited : (52)

References (108)
  • 1
    • 0030477156 scopus 로고    scopus 로고
    • Optimized protein diagnosis in the autosomal recessive limb-girdle muscular dystrophies
    • Anderson LV. Optimized protein diagnosis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord 1996;6:443-446.
    • (1996) Neuromuscul Disord , vol.6 , pp. 443-446
    • Anderson, L.V.1
  • 2
    • 0037738510 scopus 로고    scopus 로고
    • Defective membrane repair in dysferlin-deficient muscular dystrophy
    • Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 2003;423:168-172.
    • (2003) Nature , vol.423 , pp. 168-172
    • Bansal, D.1    Miyake, K.2    Vogel, S.S.3    Groh, S.4    Chen, C.C.5    Williamson, R.6
  • 3
    • 1842556210 scopus 로고    scopus 로고
    • Dysferlin and the plasma membrane repair in muscular dystrophy
    • Bansal D, Campbell KP. Dysferlin and the plasma membrane repair in muscular dystrophy. Trends Cell Biol 2004;14:206-213.
    • (2004) Trends Cell Biol , vol.14 , pp. 206-213
    • Bansal, D.1    Campbell, K.P.2
  • 4
    • 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
  • 5
    • 0034623959 scopus 로고    scopus 로고
    • Expression of gamma-sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex
    • Barresi R, Moore SA, Stolle CA, Mendell JR, Campbell KP. Expression of gamma-sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. J Biol Chem 2000;275:38554-38560.
    • (2000) J Biol Chem , vol.275 , pp. 38554-38560
    • Barresi, R.1    Moore, S.A.2    Stolle, C.A.3    Mendell, J.R.4    Campbell, K.P.5
  • 6
    • 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, Keers S, Vafiadaki E, Lako M, 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    Keers, S.4    Vafiadaki, E.5    Lako, M.6
  • 7
    • 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 HM, Bonne G, Varnous S, Muchir A, Ortega V, Hammouda EH, 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
  • 8
    • 0036378561 scopus 로고    scopus 로고
    • Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy
    • Bertini E, Pepe G. Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Eur J Paediatr Neurol 2002;6:193-198.
    • (2002) Eur J Paediatr Neurol , vol.6 , pp. 193-198
    • Bertini, E.1    Pepe, G.2
  • 9
    • 0034944010 scopus 로고    scopus 로고
    • Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease
    • Betz RC, Schoser BG, Kasper D, Ricker K, Ramirez A, Stein V, et al. Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nat Genet 2001;28:218-219.
    • (2001) Nat Genet , vol.28 , pp. 218-219
    • Betz, R.C.1    Schoser, B.G.2    Kasper, D.3    Ricker, K.4    Ramirez, A.5    Stein, V.6
  • 10
    • 0032852539 scopus 로고    scopus 로고
    • Decreased myocardial nNOS, increased iNOS and abnormal ECGs in mouse models of Duchenne muscular dystrophy
    • Bia BL, Cassidy PJ, Young ME, Rafael JA, Leighton B, Davies KE, et al. Decreased myocardial nNOS, increased iNOS and abnormal ECGs in mouse models of Duchenne muscular dystrophy. J Mol Cell Cardiol 1999;31:1857-1862.
    • (1999) J Mol Cell Cardiol , vol.31 , pp. 1857-1862
    • Bia, B.L.1    Cassidy, P.J.2    Young, M.E.3    Rafael, J.A.4    Leighton, B.5    Davies, K.E.6
  • 11
    • 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 HM, 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
  • 12
    • 0042164479 scopus 로고    scopus 로고
    • 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, the Netherlands
    • Bonne G, Yaou RB, Beroud C, Boriani G, Brown S, de Visser M, et al. 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul Disord 2003;13:508-515.
    • (2003) Neuromuscul Disord , vol.13 , pp. 508-515
    • Bonne, G.1    Yaou, R.B.2    Beroud, C.3    Boriani, G.4    Brown, S.5    De Visser, M.6
  • 13
    • 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
  • 14
    • 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 JP. 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
  • 15
    • 17044449846 scopus 로고    scopus 로고
    • Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia
    • Carbone I, Bruno C, Sotgia F, Bado M, Broda P, Masetti E, et al. Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. Neurology 2000;54:1373-1376.
    • (2000) Neurology , vol.54 , pp. 1373-1376
    • Carbone, I.1    Bruno, C.2    Sotgia, F.3    Bado, M.4    Broda, P.5    Masetti, E.6
  • 16
    • 0037306238 scopus 로고    scopus 로고
    • Assessment of left ventricular systolic and diastolic functions in children with merosin-positive congenital muscular dystrophy
    • Ceviz N, Alehan F, Alehan D, Ozme S, Akcoren Z, Kale G, et al. Assessment of left ventricular systolic and diastolic functions in children with merosin-positive congenital muscular dystrophy. Int J Cardiol 2003;87:129-133.
    • (2003) Int J Cardiol , vol.87 , pp. 129-133
    • Ceviz, N.1    Alehan, F.2    Alehan, D.3    Ozme, S.4    Akcoren, Z.5    Kale, G.6
  • 17
    • 3442885991 scopus 로고    scopus 로고
    • Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy
    • Cohen N, Muntoni F. Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. Heart 2004;90:835-841.
    • (2004) Heart , vol.90 , pp. 835-841
    • Cohen, N.1    Muntoni, F.2
  • 18
    • 0033814140 scopus 로고    scopus 로고
    • Molecular basis of muscular dystrophies
    • Cohn RD, Campbell KP. Molecular basis of muscular dystrophies. Muscle Nerve 2000;23:1456-1471.
    • (2000) Muscle Nerve , vol.23 , pp. 1456-1471
    • Cohn, R.D.1    Campbell, K.P.2
  • 20
    • 0033588050 scopus 로고    scopus 로고
    • Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: A novel mechanism for cardiomyopathy and muscular dystrophy
    • Coral-Vazquez R, Cohn RD, Moore SA, Hill JA, Weiss RM, Davisson RL, et al. Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell 1999;98:465-474.
    • (1999) Cell , vol.98 , pp. 465-474
    • Coral-Vazquez, R.1    Cohn, R.D.2    Moore, S.A.3    Hill, J.A.4    Weiss, R.M.5    Davisson, R.L.6
  • 21
    • 0036126476 scopus 로고    scopus 로고
    • Becker muscular dystrophy-related cardiomyopathy: A favorable response to medical therapy
    • Doing AH, Renlund DG, Smith RA. Becker muscular dystrophy-related cardiomyopathy: a favorable response to medical therapy. J Heart Lung Transplant 2002;21:496-498.
    • (2002) J Heart Lung Transplant , vol.21 , pp. 496-498
    • Doing, A.H.1    Renlund, D.G.2    Smith, R.A.3
  • 22
  • 23
    • 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
  • 24
    • 0030962528 scopus 로고    scopus 로고
    • Autonomic nervous system imbalance and left ventricular systolic dysfunction as potential candidates for arrhythmogenesis in Becker muscular dystrophy
    • Ducceschi V, Nigro G, Sarubbi B, Comi LI, Politano L, Petretta VR, et al. Autonomic nervous system imbalance and left ventricular systolic dysfunction as potential candidates for arrhythmogenesis in Becker muscular dystrophy. Int J Cardiol 1997;59:275-279.
    • (1997) Int J Cardiol , vol.59 , pp. 275-279
    • Ducceschi, V.1    Nigro, G.2    Sarubbi, B.3    Comi, L.I.4    Politano, L.5    Petretta, V.R.6
  • 25
    • 0033963757 scopus 로고    scopus 로고
    • Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E
    • Durbeej M, Cohn RD, Hrstka RF, Moore SA, Allamand V, Davidson BL, et al. Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. Mol Cell 2000;5:141-151.
    • (2000) Mol Cell , vol.5 , pp. 141-151
    • Durbeej, M.1    Cohn, R.D.2    Hrstka, R.F.3    Moore, S.A.4    Allamand, V.5    Davidson, B.L.6
  • 26
    • 0036591684 scopus 로고    scopus 로고
    • Muscular dystrophies involving the dystrophin-glycoprotein complex: An overview of current mouse models
    • Durbeej M, Campbell KP. Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models. Curr Opin Genet Dev 2002;12:349-361.
    • (2002) Curr Opin Genet Dev , vol.12 , pp. 349-361
    • Durbeej, M.1    Campbell, K.P.2
  • 27
    • 0037160782 scopus 로고    scopus 로고
    • The muscular dystrophies
    • Emery AE. The muscular dystrophies. Lancet 2002;359:687-695.
    • (2002) Lancet , vol.359 , pp. 687-695
    • Emery, A.E.1
  • 28
    • 0038190993 scopus 로고    scopus 로고
    • Costameres: The Achilles' heel of Herculean muscle
    • Ervasti JM. Costameres: the Achilles' heel of Herculean muscle. J Biol Chem 2003;278:13591-13594.
    • (2003) J Biol Chem , vol.278 , pp. 13591-13594
    • Ervasti, J.M.1
  • 30
    • 0018934507 scopus 로고
    • Echocardiographic evaluation of left ventricular function in Duchenne's muscular dystrophy
    • Farah MG, Evans EB, Vignos PJ Jr. Echocardiographic evaluation of left ventricular function in Duchenne's muscular dystrophy. Am J Med 1980;69:248-254.
    • (1980) Am J Med , vol.69 , pp. 248-254
    • Farah, M.G.1    Evans, E.B.2    Vignos Jr., P.J.3
  • 31
    • 0037276860 scopus 로고    scopus 로고
    • The heart in human dystrophinopathies
    • Finsterer J, Stollberger C. The heart in human dystrophinopathies. Cardiology 2003;99:1-19.
    • (2003) Cardiology , vol.99 , pp. 1-19
    • Finsterer, J.1    Stollberger, C.2
  • 32
    • 0034792435 scopus 로고    scopus 로고
    • Caveolae and caveolin-3 in muscular dystrophy
    • Galbiati F, Razani B, Lisanti MP. Caveolae and caveolin-3 in muscular dystrophy. Trends Mol Med 2001;7:435-441.
    • (2001) Trends Mol Med , vol.7 , pp. 435-441
    • Galbiati, F.1    Razani, B.2    Lisanti, M.P.3
  • 33
    • 0036478897 scopus 로고    scopus 로고
    • Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
    • Gerull B, Gramlich M, Atherton J, McNabb M, Trombitas K, Sasse-Klaassen S, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 2002;30:201-204.
    • (2002) Nat Genet , vol.30 , pp. 201-204
    • Gerull, B.1    Gramlich, M.2    Atherton, J.3    McNabb, M.4    Trombitas, K.5    Sasse-Klaassen, S.6
  • 35
    • 0032735294 scopus 로고    scopus 로고
    • Cardiomyopathy in Duchenne, Becker, and sarcoglycanopathies: A role for coronary dysfunction?
    • Gnecchi-Ruscone T, Taylor J, Mercuri E, Paternostro G, Pogue R, Bushby K, et al. Cardiomyopathy in Duchenne, Becker, and sarcoglycanopathies: a role for coronary dysfunction? Muscle Nerve 1999;22:1549-1556.
    • (1999) Muscle Nerve , vol.22 , pp. 1549-1556
    • Gnecchi-Ruscone, T.1    Taylor, J.2    Mercuri, E.3    Paternostro, G.4    Pogue, R.5    Bushby, K.6
  • 36
    • 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
  • 37
    • 0033885496 scopus 로고    scopus 로고
    • Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex
    • Hack AA, Lam MY, Cordier L, Shoturma DI, Ly CT, Hadhazy MA, et al. Differential requirement for individual sarcoglycans and dystrophin in the assembly and function of the dystrophin-glycoprotein complex. J Cell Sci 2000;113:2535-2544.
    • (2000) J Cell Sci , vol.113 , pp. 2535-2544
    • Hack, A.A.1    Lam, M.Y.2    Cordier, L.3    Shoturma, D.I.4    Ly, C.T.5    Hadhazy, M.A.6
  • 38
    • 0141924531 scopus 로고    scopus 로고
    • The role of titin in muscular disorders
    • Hackman JP, Vihola AK, Udd AB. The role of titin in muscular disorders. Ann Med 2003;35:434-441.
    • (2003) Ann Med , vol.35 , pp. 434-441
    • Hackman, J.P.1    Vihola, A.K.2    Udd, A.B.3
  • 41
    • 10744220034 scopus 로고    scopus 로고
    • Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy
    • Hayashi T, Arimura T, Ueda K, Shibata H, Hohda S, Takahashi M, et al. Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun 2004;313: 178-184.
    • (2004) Biochem Biophys Res Commun , vol.313 , pp. 178-184
    • Hayashi, T.1    Arimura, T.2    Ueda, K.3    Shibata, H.4    Hohda, S.5    Takahashi, M.6
  • 42
    • 0028980027 scopus 로고
    • Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy
    • Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 1995;11:216-218.
    • (1995) Nat Genet , vol.11 , pp. 216-218
    • Helbling-Leclerc, A.1    Zhang, X.2    Topaloglu, H.3    Cruaud, C.4    Tesson, F.5    Weissenbach, J.6
  • 44
  • 47
    • 0036799939 scopus 로고    scopus 로고
    • Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large (myd) mouse defines a natural model for glycosylation-deficient muscle-eye-brain disorders
    • Holzfeind PJ, Grewal PK, Reitsamer HA, Kechvar J, Lassmann H, Hoeger H, et al. Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large (myd) mouse defines a natural model for glycosylation-deficient muscle-eye-brain disorders. Hum Mol Genet 2002;11:2673-2687.
    • (2002) Hum Mol Genet , vol.11 , pp. 2673-2687
    • Holzfeind, P.J.1    Grewal, P.K.2    Reitsamer, H.A.3    Kechvar, J.4    Lassmann, H.5    Hoeger, H.6
  • 48
    • 0024997218 scopus 로고
    • Secretion and clinical significance of atrial natriuretic peptide in patients with muscular dystrophy
    • Kawai H, Adachi K, Kimura C, Nishiuchi T, Yamasaki Y, Tsutsui Y, Saito S. Secretion and clinical significance of atrial natriuretic peptide in patients with muscular dystrophy. Arch Neurol 1990;47:900-904.
    • (1990) Arch Neurol , vol.47 , pp. 900-904
    • Kawai, H.1    Adachi, K.2    Kimura, C.3    Nishiuchi, T.4    Yamasaki, Y.5    Tsutsui, Y.6    Saito, S.7
  • 49
    • 3242801462 scopus 로고    scopus 로고
    • A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy
    • Kuru S, Yasuma F, Wakayama T, Kimura S, Konagaya M, Aoki M, et al. A patient with limb girdle muscular dystrophy type 2B (LGMD2B) manifesting cardiomyopathy. Rinsho Shinkeigaku 2004;44:375-378.
    • (2004) Rinsho Shinkeigaku , vol.44 , pp. 375-378
    • Kuru, S.1    Yasuma, F.2    Wakayama, T.3    Kimura, S.4    Konagaya, M.5    Aoki, M.6
  • 50
    • 2342621479 scopus 로고    scopus 로고
    • The dystrophin glycoprotein complex: Signaling strength and integrity for the sarcolemma
    • Lapidos KA, Kakkar R, McNally EM. The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma. Circ Res 2004;94:1023-1031.
    • (2004) Circ Res , vol.94 , pp. 1023-1031
    • Lapidos, K.A.1    Kakkar, R.2    McNally, E.M.3
  • 52
    • 0036537888 scopus 로고    scopus 로고
    • A novel interaction between lamin A and SREBP1: Implications for partial lipodystrophy and other laminopathies
    • Lloyd DJ, Trembath RC, Shackleton S. A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies. Hum Mol Genet 2002; 11:769-777.
    • (2002) Hum Mol Genet , vol.11 , pp. 769-777
    • Lloyd, D.J.1    Trembath, R.C.2    Shackleton, S.3
  • 53
    • 0035880516 scopus 로고    scopus 로고
    • The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle
    • Matsuda C, Hayashi YK, Ogawa M, Aoki M, Murayama K, Nishino I, et al. The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. Hum Mol Genet 2001; 10:1761-1766.
    • (2001) Hum Mol Genet , vol.10 , pp. 1761-1766
    • Matsuda, C.1    Hayashi, Y.K.2    Ogawa, M.3    Aoki, M.4    Murayama, K.5    Nishino, I.6
  • 55
    • 2942736964 scopus 로고    scopus 로고
    • Cardiomyopathy in muscular dystrophy workshop. 28-30 September 2003, Tucson, Arizona
    • McNally EM, Towbin JA. Cardiomyopathy in muscular dystrophy workshop. 28-30 September 2003, Tucson, Arizona. Neuromuscul Disord 2004;14:442-448.
    • (2004) Neuromuscul Disord , vol.14 , pp. 442-448
    • McNally, E.M.1    Towbin, J.A.2
  • 56
    • 8044224015 scopus 로고    scopus 로고
    • Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy
    • Melacini P, Fanin M, Danieli GA, 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
  • 59
    • 0037173670 scopus 로고    scopus 로고
    • Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
    • Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, et al. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 2002;418:417-422.
    • (2002) Nature , vol.418 , pp. 417-422
    • Michele, D.E.1    Barresi, R.2    Kanagawa, M.3    Saito, F.4    Cohn, R.D.5    Satz, J.S.6
  • 60
    • 0038182574 scopus 로고    scopus 로고
    • Dystrophin-glycoprotein complex: Post-translational processing and dystroglycan function
    • Michele DE, Campbell KP. Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function. J Biol Chem 2003;278:15457-15460.
    • (2003) J Biol Chem , vol.278 , pp. 15457-15460
    • Michele, D.E.1    Campbell, K.P.2
  • 61
    • 0037994309 scopus 로고    scopus 로고
    • Four cases of Fukuyama type congenital muscular dystrophy with edema
    • Minami R, Ishikawa Y. Four cases of Fukuyama type congenital muscular dystrophy with edema. No To Hattatsu 2003; 35:264-265.
    • (2003) No to Hattatsu , vol.35 , pp. 264-265
    • Minami, R.1    Ishikawa, Y.2
  • 62
    • 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
  • 63
    • 0036142950 scopus 로고    scopus 로고
    • Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency
    • Minetti C, Bado M, Broda P, Sotgia F, Bruno C, Galbiati F, et al. Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency. Am J Pathol 2002;160:265-270.
    • (2002) Am J Pathol , vol.160 , pp. 265-270
    • Minetti, C.1    Bado, M.2    Broda, P.3    Sotgia, F.4    Bruno, C.5    Galbiati, F.6
  • 64
    • 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, Nilforoushan A, Vainzof M, Suzuki OT, et al. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nat Genet 2000;24:163-166.
    • (2000) Nat Genet , vol.24 , pp. 163-166
    • Moreira, E.S.1    Wiltshire, T.J.2    Faulkner, G.3    Nilforoushan, A.4    Vainzof, M.5    Suzuki, O.T.6
  • 65
    • 0036517436 scopus 로고    scopus 로고
    • Plasma levels of natriuretic peptide and echocardiographic parameters in patients with Duchenne's progressive muscular dystrophy
    • Mori K, Manabe T, Nii M, Hayabuchi Y, Kuroda Y, Tatara K. Plasma levels of natriuretic peptide and echocardiographic parameters in patients with Duchenne's progressive muscular dystrophy. Pediatr Cardiol 2002;23:160-166.
    • (2002) Pediatr Cardiol , vol.23 , pp. 160-166
    • Mori, K.1    Manabe, T.2    Nii, M.3    Hayabuchi, Y.4    Kuroda, Y.5    Tatara, K.6
  • 67
    • 0142042349 scopus 로고    scopus 로고
    • Cardiomyopathy in muscular dystrophies
    • Muntoni F. Cardiomyopathy in muscular dystrophies. Curr Opin Neurol 2003;16:577-583.
    • (2003) Curr Opin Neurol , vol.16 , pp. 577-583
    • Muntoni, F.1
  • 68
    • 0344420060 scopus 로고    scopus 로고
    • Dystrophin and mutations: One gene, several proteins, multiple phenotypes
    • Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2003;2:731-740.
    • (2003) Lancet Neurol , vol.2 , pp. 731-740
    • Muntoni, F.1    Torelli, S.2    Ferlini, A.3
  • 70
    • 4444234437 scopus 로고    scopus 로고
    • The congenital muscular dystrophies in 2004: A century of exciting progress
    • Muntoni F, Voit T. The congenital muscular dystrophies in 2004: a century of exciting progress. Neuromuscul Disord 2004;14:635-649.
    • (2004) Neuromuscul Disord , vol.14 , pp. 635-649
    • Muntoni, F.1    Voit, T.2
  • 71
    • 0025017751 scopus 로고
    • The incidence and evolution of Cardiomyopathy in Duchenne muscular dystrophy
    • Nigro G, Comi LI, Politano L, Bain RJ. 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
  • 73
    • 11144355499 scopus 로고    scopus 로고
    • Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice
    • Nikolova V, Leimena C, McMahon AC, Tan JC, Chandar S, Jogia D, et al. Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice. J Clin Invest 2004;113:357-369.
    • (2004) J Clin Invest , vol.113 , pp. 357-369
    • Nikolova, V.1    Leimena, C.2    McMahon, A.C.3    Tan, J.C.4    Chandar, S.5    Jogia, D.6
  • 74
    • 0037306124 scopus 로고    scopus 로고
    • Cardiac assessment in childhood carriers of Duchenne and Becker muscular dystrophies
    • Nolan MA, Jones OD, Pedersen RL, Johnston HM. 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
  • 75
    • 1342268582 scopus 로고    scopus 로고
    • Overexpression of P104L mutant caveolin-3 in mice develops hypertrophic cardiomyopathy with enhanced contractility in association with increased endothelial nitric oxide synthase activity
    • Ohsawa Y, Toko H, Katsura M, Morimoto K, Yamada H, Ichikawa Y, et al. Overexpression of P104L mutant caveolin-3 in mice develops hypertrophic cardiomyopathy with enhanced contractility in association with increased endothelial nitric oxide synthase activity. Hum Mol Genet 2004;13: 151-157.
    • (2004) Hum Mol Genet , vol.13 , pp. 151-157
    • Ohsawa, Y.1    Toko, H.2    Katsura, M.3    Morimoto, K.4    Yamada, H.5    Ichikawa, Y.6
  • 76
    • 0037382801 scopus 로고    scopus 로고
    • Nuclear envelope proteins and neuromuscular diseases
    • Ostlund C, Worman HJ. Nuclear envelope proteins and neuromuscular diseases. Muscle Nerve 2003;27:393-406.
    • (2003) Muscle Nerve , vol.27 , pp. 393-406
    • Ostlund, C.1    Worman, H.J.2
  • 77
    • 0035095579 scopus 로고    scopus 로고
    • Sarcolemmopathy: Muscular dystrophies with cell membrane defects
    • Ozawa E, Nishino I, Nonaka I. Sarcolemmopathy: muscular dystrophies with cell membrane defects. Brain Pathol 2001; 11:218-230.
    • (2001) Brain Pathol , vol.11 , pp. 218-230
    • Ozawa, E.1    Nishino, I.2    Nonaka, I.3
  • 78
    • 0041664084 scopus 로고    scopus 로고
    • New molecular mechanism for Ullrich congenital muscular dystrophy: A heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype
    • Pan TC, Zhang RZ, Sudano DG, Marie SK, Bonnemann CG, Chu ML. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am J Hum Genet 2003;73:355-369.
    • (2003) Am J Hum Genet , vol.73 , pp. 355-369
    • Pan, T.C.1    Zhang, R.Z.2    Sudano, D.G.3    Marie, S.K.4    Bonnemann, C.G.5    Chu, M.L.6
  • 79
    • 0036895072 scopus 로고    scopus 로고
    • Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23-24 November 2001, Naarden, the Netherlands
    • Pepe G, Bertini E, Bonaldo P, Bushby K, Giusti B, de Visser M, et al. Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23-24 November 2001, Naarden, The Netherlands. Neuromuscul Disord 2002;12:984-993.
    • (2002) Neuromuscul Disord , vol.12 , pp. 984-993
    • Pepe, G.1    Bertini, E.2    Bonaldo, P.3    Bushby, K.4    Giusti, B.5    De Visser, M.6
  • 80
    • 0036839039 scopus 로고    scopus 로고
    • Molecular pathophysiology of myofiber injury in deficiencies of the dystrophin-glycoprotein complex
    • Petrof BJ. Molecular pathophysiology of myofiber injury in deficiencies of the dystrophin-glycoprotein complex. Am J Phys Med Rehabil 2002;81:S162-S174.
    • (2002) Am J Phys Med Rehabil , vol.81
    • Petrof, B.J.1
  • 81
    • 0037304759 scopus 로고    scopus 로고
    • Differential regulation of nitric oxide synthases and their allosteric regulators in heart and vessels of hypertensive rats
    • Piech A, Dessy C, Havaux X, Feron O, Balligand JL. Differential regulation of nitric oxide synthases and their allosteric regulators in heart and vessels of hypertensive rats. Cardiovasc Res 2003;57:456-467.
    • (2003) Cardiovasc Res , vol.57 , pp. 456-467
    • Piech, A.1    Dessy, C.2    Havaux, X.3    Feron, O.4    Balligand, J.L.5
  • 82
    • 0035139309 scopus 로고    scopus 로고
    • Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies
    • Pogue R, Anderson LV, Pyle A, Sewry C, Pollitt C, Johnson MA, et al. Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. Neuromuscul Disord 2001;11:80-87.
    • (2001) Neuromuscul Disord , vol.11 , pp. 80-87
    • Pogue, R.1    Anderson, L.V.2    Pyle, A.3    Sewry, C.4    Pollitt, C.5    Johnson, M.A.6
  • 83
    • 0029971310 scopus 로고    scopus 로고
    • Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies
    • Politano L, Nigro V, Nigro G, Petretta VR, 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
  • 86
    • 0036018878 scopus 로고    scopus 로고
    • Assessment of cardiac function in adolescents with Duchenne muscular dystrophy: Importance of neurohormones
    • Ramaciotti C, Scott WA, Lemler MS, Haverland C, Iannaccone ST. Assessment of cardiac function in adolescents with Duchenne muscular dystrophy: importance of neurohormones. J Child Neurol 2002;17:191-194.
    • (2002) J Child Neurol , vol.17 , pp. 191-194
    • Ramaciotti, C.1    Scott, W.A.2    Lemler, M.S.3    Haverland, C.4    Iannaccone, S.T.5
  • 87
    • 0035190381 scopus 로고    scopus 로고
    • The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies
    • Rando TA. The dystrophin-glycoprotein complex, cellular signaling, and the regulation of cell survival in the muscular dystrophies. Muscle Nerve 2001;24:1575-1594.
    • (2001) Muscle Nerve , vol.24 , pp. 1575-1594
    • Rando, T.A.1
  • 88
    • 0034605070 scopus 로고    scopus 로고
    • The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin
    • Rybakova IN, Patel JR, Ervasti JM. The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin. J Cell Biol 2000;150:1209-1214.
    • (2000) J Cell Biol , vol.150 , pp. 1209-1214
    • Rybakova, I.N.1    Patel, J.R.2    Ervasti, J.M.3
  • 91
    • 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, Heiska L, Kere J, Carpen O. 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;8:1329-1336.
    • (1999) Hum Mol Genet , vol.8 , pp. 1329-1336
    • Salmikangas, P.1    Mykkanen, O.M.2    Gronholm, M.3    Heiska, L.4    Kere, J.5    Carpen, O.6
  • 92
    • 0037439275 scopus 로고    scopus 로고
    • Myotilin, the -limb-girdle muscular dystrophy IA (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly
    • Salmikangas P, van der Ven PF, Lalowski M, Taivainen A, Zhao F, Suila H, et al. Myotilin, the -limb-girdle muscular dystrophy IA (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. Hum Mol Genet 2003;12: 189-203.
    • (2003) Hum Mol Genet , vol.12 , pp. 189-203
    • Salmikangas, P.1    Van Der Ven, P.F.2    Lalowski, M.3    Taivainen, A.4    Zhao, F.5    Suila, H.6
  • 93
    • 0034610326 scopus 로고    scopus 로고
    • Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy
    • Sander M, Chavoshan B, Harris SA, Iannaccone ST, Stull JT, Thomas GD, et al. Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy. Proc Natl Acad Sci USA 2000;97;13818-13823.
    • (2000) Proc Natl Acad Sci USA , vol.97 , pp. 13818-13823
    • Sander, M.1    Chavoshan, B.2    Harris, S.A.3    Iannaccone, S.T.4    Stull, J.T.5    Thomas, G.D.6
  • 94
    • 10744225746 scopus 로고    scopus 로고
    • Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations
    • Sanna T, Dello Russo A, Toniolo D, Vytopil M, Pelargonio G, De Martino G, et al. Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. Eur Heart J 2003;24:2227-2236.
    • (2003) Eur Heart J , vol.24 , pp. 2227-2236
    • Sanna, T.1    Dello Russo, A.2    Toniolo, D.3    Vytopil, M.4    Pelargonio, G.5    De Martino, G.6
  • 95
    • 1942473823 scopus 로고    scopus 로고
    • Mutations in myotilin cause myofibrillar myopathy
    • Selcen D, Engel AG. Mutations in myotilin cause myofibrillar myopathy. Neurology 2004;62:1363-1371.
    • (2004) Neurology , vol.62 , pp. 1363-1371
    • Selcen, D.1    Engel, A.G.2
  • 96
    • 15844401780 scopus 로고    scopus 로고
    • Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins
    • Song KS, Scherer PE, Tang Z, Okamoto T, Li S, Chafel M, et al. Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins. J Biol Chem 1996;271:15160-15165.
    • (1996) J Biol Chem , vol.271 , pp. 15160-15165
    • Song, K.S.1    Scherer, P.E.2    Tang, Z.3    Okamoto, T.4    Li, S.5    Chafel, M.6
  • 97
    • 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 PG, 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
  • 98
    • 0031035219 scopus 로고    scopus 로고
    • Dystrophin is not a specific component of the cardiac costamere
    • Stevenson S, Rothery S, Cullen MJ, Severs NJ. Dystrophin is not a specific component of the cardiac costamere. Circ Res 1997;80:269-280.
    • (1997) Circ Res , vol.80 , pp. 269-280
    • Stevenson, S.1    Rothery, S.2    Cullen, M.J.3    Severs, N.J.4
  • 99
    • 0030909575 scopus 로고    scopus 로고
    • Muscular dystrophies and the dystrophin-glycoprotein complex
    • Straub V, Campbell KP. Muscular dystrophies and the dystrophin- glycoprotein complex. Curr Opin Neurol 1997;10: 168-175.
    • (1997) Curr Opin Neurol , vol.10 , pp. 168-175
    • Straub, V.1    Campbell, K.P.2
  • 100
    • 0028845066 scopus 로고
    • Dystrophin-glycoprotein complex: Molecular organization and critical roles in skeletal muscle
    • Sunada Y, Campbell KP. Dystrophin-glycoprotein complex: molecular organization and critical roles in skeletal muscle. Curr Opin Neurol 1995;8:379-384.
    • (1995) Curr Opin Neurol , vol.8 , pp. 379-384
    • Sunada, Y.1    Campbell, K.P.2
  • 101
    • 0036837228 scopus 로고    scopus 로고
    • Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy
    • Talkop UA, Talvik I, Sonajalg M, Sibul H, Kolk A, Piirsoo A, et al. Early onset of cardiomyopathy in two brothers with X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 2002;12:878-881.
    • (2002) Neuromuscul Disord , vol.12 , pp. 878-881
    • Talkop, U.A.1    Talvik, I.2    Sonajalg, M.3    Sibul, H.4    Kolk, A.5    Piirsoo, A.6
  • 105
    • 0041559837 scopus 로고    scopus 로고
    • Sarcoglycans in vascular smooth and striated muscle
    • Wheeler MT, McNally EM. Sarcoglycans in vascular smooth and striated muscle. Trends Cardiovasc Med 2003;13:238-243.
    • (2003) Trends Cardiovasc Med , vol.13 , pp. 238-243
    • Wheeler, M.T.1    McNally, E.M.2
  • 106
    • 0037064033 scopus 로고    scopus 로고
    • Caveolin-3 knock-out mice develop a progressive cardiomyopathy and show hyperactivation of the p42/44 MAPK cascade
    • Woodman SE, Park DS, Cohen AW, Cheung MW, Chandra M, Shirani J, et al. Caveolin-3 knock-out mice develop a progressive cardiomyopathy and show hyperactivation of the p42/44 MAPK cascade. J Biol Chem 2002;277:38988-38997.
    • (2002) J Biol Chem , vol.277 , pp. 38988-38997
    • Woodman, S.E.1    Park, D.S.2    Cohen, A.W.3    Cheung, M.W.4    Chandra, M.5    Shirani, J.6
  • 107
    • 0036899615 scopus 로고    scopus 로고
    • The nuclear lamina and inherited disease
    • Worman HJ, Courvalin JC. The nuclear lamina and inherited disease. Trends Cell Biol 2002;12:591-598.
    • (2002) Trends Cell Biol , vol.12 , pp. 591-598
    • Worman, H.J.1    Courvalin, J.C.2
  • 108
    • 1342283977 scopus 로고    scopus 로고
    • Loss of basement membrane, receptor and cytoskeletal lattices in a laminin-deficient muscular dystrophy
    • Yurchenco PD, Cheng YS, Campbell K, Li S. Loss of basement membrane, receptor and cytoskeletal lattices in a laminin-deficient muscular dystrophy. J Cell Sci 2004;117:735-742.
    • (2004) J Cell Sci , vol.117 , pp. 735-742
    • Yurchenco, P.D.1    Cheng, Y.S.2    Campbell, K.3    Li, S.4


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