메뉴 건너뛰기




Volumn 24, Issue 1, 2007, Pages 3-13

Genetics of dilated cardiomyopathy conduction disease

Author keywords

Arrhythmia; Conduction disease; Dilated cardiomyopathy; Genetics; Muscular dystrophy; Sudden death

Indexed keywords

ABCC9 PROTEIN; DESMIN; DESMOPLAKIN; DYSTROBREVIN; DYSTROPHIN; EMERIN; ION CHANNEL; LAMIN A; LAMIN C; PHOSPHOLAMBAN; PRESENILIN 1; PRESENILIN 2; SARCOGLYCAN; SCN5A PROTEIN; SODIUM CHANNEL; UNCLASSIFIED DRUG;

EID: 35348914777     PISSN: 10589813     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ppedcard.2007.08.003     Document Type: Review
Times cited : (7)

References (104)
  • 1
    • 0029864693 scopus 로고    scopus 로고
    • Report, of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies
    • Report, of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies. Circulation 93 (1996) 841-842
    • (1996) Circulation , vol.93 , pp. 841-842
  • 2
    • 33646693410 scopus 로고    scopus 로고
    • Contemporary definitions and classification of the cardiomyopathies
    • Maron B.J., Towbin J.A., Thiene G., et al. Contemporary definitions and classification of the cardiomyopathies. Circulation 113 (2006) 1807-1816
    • (2006) Circulation , vol.113 , pp. 1807-1816
    • Maron, B.J.1    Towbin, J.A.2    Thiene, G.3
  • 3
    • 0032934453 scopus 로고    scopus 로고
    • Guidelines for the study of familial dilated cardiomyopathies
    • Mestroni L., Maisch B., McKenna W.J., et al. Guidelines for the study of familial dilated cardiomyopathies. Eur Heart J 20 (1999) 93-102
    • (1999) Eur Heart J , vol.20 , pp. 93-102
    • Mestroni, L.1    Maisch, B.2    McKenna, W.J.3
  • 4
    • 0034620567 scopus 로고    scopus 로고
    • A 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., and Mestroni L. A lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 101 (2000) 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
  • 5
    • 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., 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 341 (1999) 1715-1724
    • (1999) N Engl J Med , vol.341 , pp. 1715-1724
    • Fatkin, D.1    MacRae, C.2    Sasaki, T.3
  • 6
    • 0037420074 scopus 로고    scopus 로고
    • Natural history of dilated cardiomyopathy due to lamin A/C gene mutations
    • Taylor M.R.G., Fain P., Sinagra G., et al. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol 41 (2003) 771-780
    • (2003) J Am Coll Cardiol , vol.41 , pp. 771-780
    • Taylor, M.R.G.1    Fain, P.2    Sinagra, G.3
  • 7
    • 0033038895 scopus 로고    scopus 로고
    • Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series
    • Buckley A.E., Dean J., and Mahy I.R. Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. Heart 82 (1999) 105-108
    • (1999) Heart , vol.82 , pp. 105-108
    • Buckley, A.E.1    Dean, J.2    Mahy, I.R.3
  • 8
    • 0025126599 scopus 로고
    • Cardiac transplantation in female Emery-Dreifuss muscular dystrophy
    • Merchut M.P., Zdonczyk D., and Gujrati M. Cardiac transplantation in female Emery-Dreifuss muscular dystrophy. J Neurol 237 (1990) 316-319
    • (1990) J Neurol , vol.237 , pp. 316-319
    • Merchut, M.P.1    Zdonczyk, D.2    Gujrati, M.3
  • 9
    • 0028145745 scopus 로고
    • A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1
    • Kass S., MacRae C., Graber H.L., et al. A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1. Nat Genet 7 (1994) 546-551
    • (1994) Nat Genet , vol.7 , pp. 546-551
    • Kass, S.1    MacRae, C.2    Graber, H.L.3
  • 10
    • 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., et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 21 (1999) 285-288
    • (1999) Nat Genet , vol.21 , pp. 285-288
    • Bonne, G.1    Di Barletta, M.R.2    Varnous, S.3
  • 11
    • 0042327845 scopus 로고    scopus 로고
    • Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations
    • Sebillon P., Bouchier C., Bidot L.D., et al. Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. J Med Genet 40 (2003) 560-567
    • (2003) J Med Genet , vol.40 , pp. 560-567
    • Sebillon, P.1    Bouchier, C.2    Bidot, L.D.3
  • 12
    • 18344380431 scopus 로고    scopus 로고
    • Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease
    • Arbustini E., Pilotto A., Repetto A., et al. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol 39 (2002) 981-990
    • (2002) J Am Coll Cardiol , vol.39 , pp. 981-990
    • Arbustini, E.1    Pilotto, A.2    Repetto, A.3
  • 13
    • 0036911038 scopus 로고    scopus 로고
    • A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation
    • Hershberger R.E., Hanson E.L., Jakobs P.M., et al. A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation. Am Heart J 144 (2002) 1081-1086
    • (2002) Am Heart J , vol.144 , pp. 1081-1086
    • Hershberger, R.E.1    Hanson, E.L.2    Jakobs, P.M.3
  • 14
    • 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., and Duboc D. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 354 (2006) 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
  • 15
    • 0035153087 scopus 로고    scopus 로고
    • Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes?
    • Hutchison C.J., Alvarez-Reyes M., and Vaughan O.A. Lamins in disease: why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes?. J Cell Sci 114 (2001) 9-19
    • (2001) J Cell Sci , vol.114 , pp. 9-19
    • Hutchison, C.J.1    Alvarez-Reyes, M.2    Vaughan, O.A.3
  • 16
    • 0037674654 scopus 로고    scopus 로고
    • The laminopathies: nuclear structure meets disease
    • Mounkes L., Kozlov S., Burke B., and Stewart C.L. The laminopathies: nuclear structure meets disease. Curr Opin 13 (2003) 1-8
    • (2003) Curr Opin , vol.13 , pp. 1-8
    • Mounkes, L.1    Kozlov, S.2    Burke, B.3    Stewart, C.L.4
  • 17
    • 0036843975 scopus 로고    scopus 로고
    • Lamins: building blocks or regulators of gene expression?
    • Hutchison C.J. Lamins: building blocks or regulators of gene expression?. Nat Rev Mol Cell Biol 3 (2002) 848-858
    • (2002) Nat Rev Mol Cell Biol , vol.3 , pp. 848-858
    • Hutchison, C.J.1
  • 18
    • 0028980880 scopus 로고
    • Structural organization of the human gene (LMNB1) encoding nuclear lamin B1
    • Lin F., and Worman H.J. Structural organization of the human gene (LMNB1) encoding nuclear lamin B1. Genomics 27 (1995) 230-236
    • (1995) Genomics , vol.27 , pp. 230-236
    • Lin, F.1    Worman, H.J.2
  • 19
    • 0025165401 scopus 로고
    • Characterization of a second highly conserved B-type lamin present in cells previously thought to contain only a single B-type lamin
    • Hoger T.H., Zatloukal K., Waizenegger I., and Krohne G. Characterization of a second highly conserved B-type lamin present in cells previously thought to contain only a single B-type lamin. Chromosoma 99 (1990) 379-390
    • (1990) Chromosoma , vol.99 , pp. 379-390
    • Hoger, T.H.1    Zatloukal, K.2    Waizenegger, I.3    Krohne, G.4
  • 20
    • 0024561417 scopus 로고
    • Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study
    • Rober R.A., Weber K., and Osborn M. Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study. Development 105 (1989) 365-378
    • (1989) Development , vol.105 , pp. 365-378
    • Rober, R.A.1    Weber, K.2    Osborn, M.3
  • 21
    • 0023180365 scopus 로고
    • Differential expression of nuclear lamin proteins during chicken development
    • Lehner C.F., Stick R., Eppenberger H.M., and Nigg E.A. Differential expression of nuclear lamin proteins during chicken development. J Cell Biol 105 (1987) 577-587
    • (1987) J Cell Biol , vol.105 , pp. 577-587
    • Lehner, C.F.1    Stick, R.2    Eppenberger, H.M.3    Nigg, E.A.4
  • 22
    • 0031686054 scopus 로고    scopus 로고
    • Nuclear lamins: their structure, assembly and interactions
    • Stuurman N., Heins S., and Aebi U. Nuclear lamins: their structure, assembly and interactions. J Struct Biol 122 (1998) 42-66
    • (1998) J Struct Biol , vol.122 , pp. 42-66
    • Stuurman, N.1    Heins, S.2    Aebi, U.3
  • 23
    • 0029932434 scopus 로고    scopus 로고
    • An alternative splicing product of the lamin A/C gene lacks exon 10
    • Machiels B.M., Zorenc A.H., Endert J.M., et al. An alternative splicing product of the lamin A/C gene lacks exon 10. J Biol Chem 271 (1996) 9249-9253
    • (1996) J Biol Chem , vol.271 , pp. 9249-9253
    • Machiels, B.M.1    Zorenc, A.H.2    Endert, J.M.3
  • 24
    • 0034700089 scopus 로고    scopus 로고
    • Meiotic lamin C2: the unique amino-terminal hexapeptide GNAEGR is essential for nuclear envelope association
    • Alsheimer M., von Glasenapp E., Schnolzer M., Heid H., and Benavente R. Meiotic lamin C2: the unique amino-terminal hexapeptide GNAEGR is essential for nuclear envelope association. Proc Natl Acad Sci U S A 97 (2000) 13120-13125
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 13120-13125
    • Alsheimer, M.1    von Glasenapp, E.2    Schnolzer, M.3    Heid, H.4    Benavente, R.5
  • 25
    • 0035650559 scopus 로고    scopus 로고
    • Nuclear membrane proteins in failing human dilated cardiomyopathy
    • Berry D.A., Keogh A., and dos Remedios C.G. Nuclear membrane proteins in failing human dilated cardiomyopathy. Proteomics 1 (2001) 1507-1512
    • (2001) Proteomics , vol.1 , pp. 1507-1512
    • Berry, D.A.1    Keogh, A.2    dos Remedios, C.G.3
  • 26
    • 0022648101 scopus 로고
    • Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins
    • McKeon F.D., Kirschner M.W., and Caput D. Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins. Nature 319 (1986) 463-468
    • (1986) Nature , vol.319 , pp. 463-468
    • McKeon, F.D.1    Kirschner, M.W.2    Caput, D.3
  • 27
    • 0034702027 scopus 로고    scopus 로고
    • Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
    • Muchir A., Bonne G., van der Kooi A.J., et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 9 (2000) 1453-1459
    • (2000) Hum Mol Genet , vol.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    van der Kooi, A.J.3
  • 28
    • 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., et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 66 (2000) 1407-1412
    • (2000) Am J Hum Genet , vol.66 , pp. 1407-1412
    • Raffaele Di Barletta, M.1    Ricci, E.2    Galluzzi, G.3
  • 29
    • 0036178210 scopus 로고    scopus 로고
    • Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
    • De Sandre-Giovannoli A., Chaouch M., Kozlov S., et al. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet 70 (2002) 726-736
    • (2002) Am J Hum Genet , vol.70 , pp. 726-736
    • De Sandre-Giovannoli, A.1    Chaouch, M.2    Kozlov, S.3
  • 30
    • 0033912260 scopus 로고    scopus 로고
    • Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C
    • Speckman R.A., Garg A., Du F., et al. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. Am J Hum Genet 66 (2000) 1192-1198
    • (2000) Am J Hum Genet , vol.66 , pp. 1192-1198
    • Speckman, R.A.1    Garg, A.2    Du, F.3
  • 31
    • 0033951216 scopus 로고    scopus 로고
    • LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
    • Shackleton S., Lloyd D.J., Jackson S.N., et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 24 (2000) 103-104
    • (2000) Nat Genet , vol.24 , pp. 103-104
    • Shackleton, S.1    Lloyd, D.J.2    Jackson, S.N.3
  • 32
    • 12244293441 scopus 로고    scopus 로고
    • Mandubuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C
    • Novelli G., Muchir A., Sangiuolo F., et al. Mandubuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet 71 (2002) 426-431
    • (2002) Am J Hum Genet , vol.71 , pp. 426-431
    • Novelli, G.1    Muchir, A.2    Sangiuolo, F.3
  • 33
    • 0037673950 scopus 로고    scopus 로고
    • Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
    • Eriksson M., Brown W.T., Gordon L.B., et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423 (2003) 293-298
    • (2003) Nature , vol.423 , pp. 293-298
    • Eriksson, M.1    Brown, W.T.2    Gordon, L.B.3
  • 34
    • 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., 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 48 (2000) 170-180
    • (2000) Ann Neurol , vol.48 , pp. 170-180
    • Bonne, G.1    Mercuri, E.2    Muchir, A.3
  • 35
    • 0037183491 scopus 로고    scopus 로고
    • Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy
    • van der Kooi A.J., Bonne G., Eymard B., et al. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology 59 (2002) 620-623
    • (2002) Neurology , vol.59 , pp. 620-623
    • van der Kooi, A.J.1    Bonne, G.2    Eymard, B.3
  • 36
    • 0033615969 scopus 로고    scopus 로고
    • Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy
    • Sullivan T., Escalante-Alcalde D., Bhatt H., et al. Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J Cell Biol 147 (1999) 913-920
    • (1999) J Cell Biol , vol.147 , pp. 913-920
    • Sullivan, T.1    Escalante-Alcalde, D.2    Bhatt, H.3
  • 38
    • 1542317663 scopus 로고    scopus 로고
    • Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction
    • Lammerding J., Schulze P.C., Takahashi T., et al. Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J Clin Invest 113 (2004) 370-378
    • (2004) J Clin Invest , vol.113 , pp. 370-378
    • Lammerding, J.1    Schulze, P.C.2    Takahashi, T.3
  • 39
    • 0037673940 scopus 로고    scopus 로고
    • A progeroid syndrome in mice is caused by defects in A-type lamins
    • Mounkes L.C., Kozlov S., Hernandez L., Sullivan T., and Stewart C.L. A progeroid syndrome in mice is caused by defects in A-type lamins. Nature 423 (2003) 298-301
    • (2003) Nature , vol.423 , pp. 298-301
    • Mounkes, L.C.1    Kozlov, S.2    Hernandez, L.3    Sullivan, T.4    Stewart, C.L.5
  • 40
    • 0036178210 scopus 로고    scopus 로고
    • Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
    • De Sandre-Giovannoli A., Chaouch M., Kozlov S., et al. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet 70 (2002) 726-736
    • (2002) Am J Hum Genet , vol.70 , pp. 726-736
    • De Sandre-Giovannoli, A.1    Chaouch, M.2    Kozlov, S.3
  • 41
    • 0033038895 scopus 로고    scopus 로고
    • Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series
    • Buckley A.E., Dean J., and Mahy I.R. Cardiac involvement in Emery Dreifuss muscular dystrophy: a case series. Heart 82 (1999) 105-108
    • (1999) Heart , vol.82 , pp. 105-108
    • Buckley, A.E.1    Dean, J.2    Mahy, I.R.3
  • 42
    • 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., et al. High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. Circulation 111 (2005) 3352-3358
    • (2005) Circulation , vol.111 , pp. 3352-3358
    • Sakata, K.1    Shimizu, M.2    Ino, H.3
  • 44
    • 6344260556 scopus 로고    scopus 로고
    • Desmin: a major intermediate filament protein essential for the structural integrity and function of muscle
    • Paulin D., and Li Z. Desmin: a major intermediate filament protein essential for the structural integrity and function of muscle. Exp Cell Res 301 (2004) 1-7
    • (2004) Exp Cell Res , vol.301 , pp. 1-7
    • Paulin, D.1    Li, Z.2
  • 45
    • 5144228375 scopus 로고    scopus 로고
    • The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation?
    • Bar H., Strelkov S.V., Sjoberg G., Aebi U., and Herrmann H. The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation?. J Struct Biol 148 (2004) 137-152
    • (2004) J Struct Biol , vol.148 , pp. 137-152
    • Bar, H.1    Strelkov, S.V.2    Sjoberg, G.3    Aebi, U.4    Herrmann, H.5
  • 47
    • 0034673647 scopus 로고    scopus 로고
    • Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene
    • Dalakas M.C., Park K.Y., Semino-Mora C., Lee H.S., Sivakumar K., and Goldfarb L.G. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 342 (2000) 770-780
    • (2000) N Engl J Med , vol.342 , pp. 770-780
    • Dalakas, M.C.1    Park, K.Y.2    Semino-Mora, C.3    Lee, H.S.4    Sivakumar, K.5    Goldfarb, L.G.6
  • 48
    • 0037374064 scopus 로고    scopus 로고
    • Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations
    • Dalakas M.C., Dagvadorj A., Goudeau B., et al. Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations. Neuromuscul Disord 13 (2003) 252-258
    • (2003) Neuromuscul Disord , vol.13 , pp. 252-258
    • Dalakas, M.C.1    Dagvadorj, A.2    Goudeau, B.3
  • 49
    • 33747180877 scopus 로고    scopus 로고
    • Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects
    • Arbustini E., Pasotti M., Pilotto A., et al. Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects. Eur J Heart Fail 8 (2006) 477-483
    • (2006) Eur J Heart Fail , vol.8 , pp. 477-483
    • Arbustini, E.1    Pasotti, M.2    Pilotto, A.3
  • 50
    • 12144286880 scopus 로고    scopus 로고
    • Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies
    • Olive M., Goldfarb L., Moreno D., et al. Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies. J Neurol Sci 219 (2004) 125-137
    • (2004) J Neurol Sci , vol.219 , pp. 125-137
    • Olive, M.1    Goldfarb, L.2    Moreno, D.3
  • 51
    • 0033520037 scopus 로고    scopus 로고
    • Desmin mutation responsible for idiopathic dilated cardiomyopathy
    • Li D., Tapscoft T., Gonzalez O., et al. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 100 (1999) 461-464
    • (1999) Circulation , vol.100 , pp. 461-464
    • Li, D.1    Tapscoft, T.2    Gonzalez, O.3
  • 52
    • 0035661601 scopus 로고    scopus 로고
    • Frequency and clinical characteristics of dilated cardiomyopathy caused by desmin gene mutation in a Japanese population
    • Miyamoto Y., Akita H., Shiga N., et al. Frequency and clinical characteristics of dilated cardiomyopathy caused by desmin gene mutation in a Japanese population. Eur Heart J 22 (2001) 2284-2289
    • (2001) Eur Heart J , vol.22 , pp. 2284-2289
    • Miyamoto, Y.1    Akita, H.2    Shiga, N.3
  • 53
    • 33947727990 scopus 로고    scopus 로고
    • Prevalence of desmin mutations in dilated cardiomyopathy
    • Taylor M.R.G., Slavov D., Ku L., et al. Prevalence of desmin mutations in dilated cardiomyopathy. Circulation 115 (2006) 1244-1251
    • (2006) Circulation , vol.115 , pp. 1244-1251
    • Taylor, M.R.G.1    Slavov, D.2    Ku, L.3
  • 54
    • 3042778127 scopus 로고    scopus 로고
    • A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation
    • Sjoberg G., Saavedra-Matiz C.A., Rosen D.R., et al. A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. Hum Mol Genet 8 (1999) 2191-2198
    • (1999) Hum Mol Genet , vol.8 , pp. 2191-2198
    • Sjoberg, G.1    Saavedra-Matiz, C.A.2    Rosen, D.R.3
  • 55
    • 12444251022 scopus 로고    scopus 로고
    • Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment
    • Dagvadorj A., Goudeau B., Hilton-Jones D., et al. Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment. Muscle Nerve 27 (2003) 669-675
    • (2003) Muscle Nerve , vol.27 , pp. 669-675
    • Dagvadorj, A.1    Goudeau, B.2    Hilton-Jones, D.3
  • 56
    • 10744233465 scopus 로고    scopus 로고
    • Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy
    • Kaminska A., Strelkov S.V., Goudeau B., et al. Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy. Hum Genet 114 (2004) 306-313
    • (2004) Hum Genet , vol.114 , pp. 306-313
    • Kaminska, A.1    Strelkov, S.V.2    Goudeau, B.3
  • 57
    • 17344373157 scopus 로고    scopus 로고
    • Missense mutations in desmin associated with familial cardiac and skeletal myopathy
    • Goldfarb L.G., Park K.-Y., Cervenacova L., et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 19 (1998) 402-403
    • (1998) Nat Genet , vol.19 , pp. 402-403
    • Goldfarb, L.G.1    Park, K.-Y.2    Cervenacova, L.3
  • 58
    • 0034633685 scopus 로고    scopus 로고
    • A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates
    • Sugawara M., Kato K., Komatsu M., et al. A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. Neurology 55 (2000) 986-990
    • (2000) Neurology , vol.55 , pp. 986-990
    • Sugawara, M.1    Kato, K.2    Komatsu, M.3
  • 59
    • 0033746702 scopus 로고    scopus 로고
    • Desmin splice variants causing cardiac and skeletal myopathy
    • Park K.Y., Dalakas M.C., Goebel H.H., et al. Desmin splice variants causing cardiac and skeletal myopathy. J Med Genet 37 (2000) 851-857
    • (2000) J Med Genet , vol.37 , pp. 851-857
    • Park, K.Y.1    Dalakas, M.C.2    Goebel, H.H.3
  • 60
    • 2342621479 scopus 로고    scopus 로고
    • The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma
    • Lapidos K.A., Kakkar R., and McNally E.M. The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma. Circ Res 94 (2004) 1023-1031
    • (2004) Circ Res , vol.94 , pp. 1023-1031
    • Lapidos, K.A.1    Kakkar, R.2    McNally, E.M.3
  • 61
    • 0037276860 scopus 로고    scopus 로고
    • The heart in human dystrophinopathies
    • Finsterer J., and Stollberger C. The heart in human dystrophinopathies. Cardiology 99 (2003) 1-19
    • (2003) Cardiology , vol.99 , pp. 1-19
    • Finsterer, J.1    Stollberger, C.2
  • 63
    • 0033818186 scopus 로고    scopus 로고
    • Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy
    • Tsubata S., Bowles K.R., Vatta M., et al. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest 106 (2000) 655-662
    • (2000) J Clin Invest , vol.106 , pp. 655-662
    • Tsubata, S.1    Bowles, K.R.2    Vatta, M.3
  • 64
    • 0029816797 scopus 로고    scopus 로고
    • Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in d-sarcoglycan gene
    • Nigro V., de Sa Moreira E., Piluso G., et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in d-sarcoglycan gene. Nat Genet 14 (1996) 195-198
    • (1996) Nat Genet , vol.14 , pp. 195-198
    • Nigro, V.1    de Sa Moreira, E.2    Piluso, G.3
  • 65
    • 1942538447 scopus 로고    scopus 로고
    • Electrical and ionic abnormalities in the heart of cardiomyopathic hamsters: in quest of a new paradigm for cardiac failure and lethal arrhythmia
    • Sakamoto A. Electrical and ionic abnormalities in the heart of cardiomyopathic hamsters: in quest of a new paradigm for cardiac failure and lethal arrhythmia. Mol Cell Biochem 259 (2004) 183-187
    • (2004) Mol Cell Biochem , vol.259 , pp. 183-187
    • Sakamoto, A.1
  • 66
    • 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 R.D., Moore S.A., et al. Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell 98 (1999) 465-474
    • (1999) Cell , vol.98 , pp. 465-474
    • Coral-Vazquez, R.1    Cohn, R.D.2    Moore, S.A.3
  • 67
    • 0032829045 scopus 로고    scopus 로고
    • Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice
    • Araishi K., Sasaoka T., Imamura M., et al. Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice. Hum Mol Genet 8 (1999) 1589-1598
    • (1999) Hum Mol Genet , vol.8 , pp. 1589-1598
    • Araishi, K.1    Sasaoka, T.2    Imamura, M.3
  • 68
    • 0035037179 scopus 로고    scopus 로고
    • Dystrophins and dystrobrevins
    • (REVIEWS3006)
    • Roberts R.G. Dystrophins and dystrobrevins. Genome Biol 2 (2001) (REVIEWS3006)
    • (2001) Genome Biol , vol.2
    • Roberts, R.G.1
  • 69
    • 0030788130 scopus 로고    scopus 로고
    • Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy
    • Metzinger L., Blake D.J., Squier M.V., et al. Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy. Hum Mol Genet 6 (1997) 1185-1191
    • (1997) Hum Mol Genet , vol.6 , pp. 1185-1191
    • Metzinger, L.1    Blake, D.J.2    Squier, M.V.3
  • 70
    • 0035814967 scopus 로고    scopus 로고
    • Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome
    • Ichida F., Tsubata S., Bowles K.R., et al. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation 103 (2001) 1256-1263
    • (2001) Circulation , vol.103 , pp. 1256-1263
    • Ichida, F.1    Tsubata, S.2    Bowles, K.R.3
  • 71
    • 18644363134 scopus 로고    scopus 로고
    • Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy
    • Rampazzo A., Nava A., Malacrida S., et al. Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. Am J Hum Genet 71 (2002) 1200-1206
    • (2002) Am J Hum Genet , vol.71 , pp. 1200-1206
    • Rampazzo, A.1    Nava, A.2    Malacrida, S.3
  • 72
    • 0034679297 scopus 로고    scopus 로고
    • Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratodera and woolly hair (Naxos disease)
    • McKoy G., Protonotarios N., Crosby A., et al. Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratodera and woolly hair (Naxos disease). Lancet 355 (2000) 2119-2124
    • (2000) Lancet , vol.355 , pp. 2119-2124
    • McKoy, G.1    Protonotarios, N.2    Crosby, A.3
  • 73
    • 0035253502 scopus 로고    scopus 로고
    • Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
    • Tiso N., Stephan D.A., Nava A., et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 10 (2001) 189-194
    • (2001) Hum Mol Genet , vol.10 , pp. 189-194
    • Tiso, N.1    Stephan, D.A.2    Nava, A.3
  • 74
    • 11444264507 scopus 로고    scopus 로고
    • Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
    • Gerull B., Heuser A., Wichter T., et al. Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. Nat Genet 37 (2004) 1162-1164
    • (2004) Nat Genet , vol.37 , pp. 1162-1164
    • Gerull, B.1    Heuser, A.2    Wichter, T.3
  • 75
    • 19944426652 scopus 로고    scopus 로고
    • Regulatory mutations in transforming growth factor-B3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1
    • Beffagna G., Occhia G., Nava A., et al. Regulatory mutations in transforming growth factor-B3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. Cardiovasc Res 65 (2005) 366-373
    • (2005) Cardiovasc Res , vol.65 , pp. 366-373
    • Beffagna, G.1    Occhia, G.2    Nava, A.3
  • 76
    • 0034326902 scopus 로고    scopus 로고
    • Recessive mutations in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma
    • Norgett E.E., Hatsell S.J., Carvajal-Huerta L., et al. Recessive mutations in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Genet 9 (2000) 2761-2766
    • (2000) Hum Genet , vol.9 , pp. 2761-2766
    • Norgett, E.E.1    Hatsell, S.J.2    Carvajal-Huerta, L.3
  • 77
    • 23244443601 scopus 로고    scopus 로고
    • Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy
    • Norman M., Simpson M., Mogensen J., et al. Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy. Circulation 112 (2005) 636-642
    • (2005) Circulation , vol.112 , pp. 636-642
    • Norman, M.1    Simpson, M.2    Mogensen, J.3
  • 78
    • 33748741625 scopus 로고    scopus 로고
    • Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy
    • Yang Z., Bowles N.E., Scherer S.E., et al. Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Res 99 (2006) 646-655
    • (2006) Circ Res , vol.99 , pp. 646-655
    • Yang, Z.1    Bowles, N.E.2    Scherer, S.E.3
  • 79
    • 33645527574 scopus 로고    scopus 로고
    • Mutations in Desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy
    • Pilichou K., Nava A., Basso C., et al. Mutations in Desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Circulation (2006) 1171-1179
    • (2006) Circulation , pp. 1171-1179
    • Pilichou, K.1    Nava, A.2    Basso, C.3
  • 80
  • 81
    • 0030031004 scopus 로고    scopus 로고
    • Mapping a cardiomyopathy locus to chromosome 3p22-p25
    • Olson T.M., and Keating M.T. Mapping a cardiomyopathy locus to chromosome 3p22-p25. J Clin Invest 97 (1996) 528-532
    • (1996) J Clin Invest , vol.97 , pp. 528-532
    • Olson, T.M.1    Keating, M.T.2
  • 82
    • 5644229494 scopus 로고    scopus 로고
    • A SCN5A mutation associated with dilated cardiomyopathy, conduction disorder and arrhythmia
    • McNair W.P., Ku L., Taylor M.R.G., et al. A SCN5A mutation associated with dilated cardiomyopathy, conduction disorder and arrhythmia. Circulation 110 (2004) 2163-2167
    • (2004) Circulation , vol.110 , pp. 2163-2167
    • McNair, W.P.1    Ku, L.2    Taylor, M.R.G.3
  • 83
    • 12544257550 scopus 로고    scopus 로고
    • Sodium channel mutations and susceptibility to heart failure and atrial fibrillation
    • Olson T.M., Michels V.V., Ballew J.D., et al. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA 293 (2005) 447-454
    • (2005) JAMA , vol.293 , pp. 447-454
    • Olson, T.M.1    Michels, V.V.2    Ballew, J.D.3
  • 84
    • 0003096674 scopus 로고    scopus 로고
    • Cardiac conduction defects associate with mutations in SCN5A
    • Schott J.J., Alshinawi C., Kyndt F., et al. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet 23 (1999) 20-21
    • (1999) Nat Genet , vol.23 , pp. 20-21
    • Schott, J.J.1    Alshinawi, C.2    Kyndt, F.3
  • 85
    • 0035931932 scopus 로고    scopus 로고
    • A sodium-channel mutation causes isolated cardiac conduction disease
    • Tan H.L., Bink-Boelkens M.T., Bezzina C.R., et al. A sodium-channel mutation causes isolated cardiac conduction disease. Nature 409 (2001) 1043-1047
    • (2001) Nature , vol.409 , pp. 1043-1047
    • Tan, H.L.1    Bink-Boelkens, M.T.2    Bezzina, C.R.3
  • 86
    • 0037154288 scopus 로고    scopus 로고
    • Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block
    • Wang D.W., Viswanathan P.C., Balser J.R., George Jr. A.L., and Benson D.W. Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation 105 (2002) 341-346
    • (2002) Circulation , vol.105 , pp. 341-346
    • Wang, D.W.1    Viswanathan, P.C.2    Balser, J.R.3    George Jr., A.L.4    Benson, D.W.5
  • 87
    • 0242317397 scopus 로고    scopus 로고
    • Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)
    • Benson D.W., Wang D.W., Dyment M., et al. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest 112 (2003) 1019-1028
    • (2003) J Clin Invest , vol.112 , pp. 1019-1028
    • Benson, D.W.1    Wang, D.W.2    Dyment, M.3
  • 88
    • 0034721235 scopus 로고    scopus 로고
    • A molecular link between the sudden infant death syndrome and the long-QT syndrome
    • Schwartz P.J., Priori S.G., Dumaine R., et al. A molecular link between the sudden infant death syndrome and the long-QT syndrome. N Engl J Med 343 (2000) 262-267
    • (2000) N Engl J Med , vol.343 , pp. 262-267
    • Schwartz, P.J.1    Priori, S.G.2    Dumaine, R.3
  • 89
    • 0028905566 scopus 로고
    • SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
    • Wang Q., Shen J., Splawski I., et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80 (1995) 805-811
    • (1995) Cell , vol.80 , pp. 805-811
    • Wang, Q.1    Shen, J.2    Splawski, I.3
  • 90
    • 0032546384 scopus 로고    scopus 로고
    • Genetic basis and molecular mechanism for idiopathic ventricular fibrillation
    • Chen Q., Kirsch G.E., Zhang D., et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 392 (1998) 293-296
    • (1998) Nature , vol.392 , pp. 293-296
    • Chen, Q.1    Kirsch, G.E.2    Zhang, D.3
  • 91
    • 0037428063 scopus 로고    scopus 로고
    • A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill
    • Groenewegen W.A., Firouzi M., Bezzina C.R., et al. A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill. Circ Res 92 (2003) 14-22
    • (2003) Circ Res , vol.92 , pp. 14-22
    • Groenewegen, W.A.1    Firouzi, M.2    Bezzina, C.R.3
  • 92
    • 0033592362 scopus 로고    scopus 로고
    • Homozygous premature truncation of the HERG protein: the human HERG knockout. In
    • Hoorntje T., Alders M., van Tintelen P., et al. Homozygous premature truncation of the HERG protein: the human HERG knockout. In. Circulation (1999) 1264-1267
    • (1999) Circulation , pp. 1264-1267
    • Hoorntje, T.1    Alders, M.2    van Tintelen, P.3
  • 93
    • 12144290256 scopus 로고    scopus 로고
    • ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating
    • Bienengraeber M., Olson T.M., Selivanov V.A., et al. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. Nat Genet 36 (2004) 382-387
    • (2004) Nat Genet , vol.36 , pp. 382-387
    • Bienengraeber, M.1    Olson, T.M.2    Selivanov, V.A.3
  • 94
    • 0035253502 scopus 로고    scopus 로고
    • Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)
    • Tiso N., Stephan D.A., Nava A., et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 10 (2001) 189-194
    • (2001) Hum Mol Genet , vol.10 , pp. 189-194
    • Tiso, N.1    Stephan, D.A.2    Nava, A.3
  • 95
    • 33845217332 scopus 로고    scopus 로고
    • Mutations of presenilin genes in dilated cardiomyopathy and heart failure
    • Li D., Parks S.B., Kushner J.D., et al. Mutations of presenilin genes in dilated cardiomyopathy and heart failure. Am J Hum Genet 79 (2006) 1030-1039
    • (2006) Am J Hum Genet , vol.79 , pp. 1030-1039
    • Li, D.1    Parks, S.B.2    Kushner, J.D.3
  • 96
    • 20144387707 scopus 로고    scopus 로고
    • Mutations in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss
    • Schönberger J., Wang L., Shin J.T., et al. Mutations in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Nat Genet 37 (2005) 418-422
    • (2005) Nat Genet , vol.37 , pp. 418-422
    • Schönberger, J.1    Wang, L.2    Shin, J.T.3
  • 97
    • 0343183359 scopus 로고    scopus 로고
    • Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24
    • Schonberger J., Levy H., Grunig E., et al. Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24. Circulation 101 (2000) 1812-1818
    • (2000) Circulation , vol.101 , pp. 1812-1818
    • Schonberger, J.1    Levy, H.2    Grunig, E.3
  • 98
    • 0037470512 scopus 로고    scopus 로고
    • Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban
    • Schmitt J.P., Kamisago M., Asahi M., et al. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science 299 (2003) 1410-1413
    • (2003) Science , vol.299 , pp. 1410-1413
    • Schmitt, J.P.1    Kamisago, M.2    Asahi, M.3
  • 99
    • 31944450889 scopus 로고    scopus 로고
    • A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy
    • Haghighi K., Kolokathis F., Gramolini A.O., et al. A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc Natl Acad Sci U S A 103 (2006) 1388-1393
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 1388-1393
    • Haghighi, K.1    Kolokathis, F.2    Gramolini, A.O.3
  • 100
    • 33748950069 scopus 로고    scopus 로고
    • Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy
    • DeWitt M.M., MacLeod H.M., Soliven B., and McNally EM. Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. J Am Coll Cardiol 48 (2006) 1396-1398
    • (2006) J Am Coll Cardiol , vol.48 , pp. 1396-1398
    • DeWitt, M.M.1    MacLeod, H.M.2    Soliven, B.3    McNally, EM.4
  • 101
    • 0037172851 scopus 로고    scopus 로고
    • Clinicopathological features of genetically confirmed Danon disease
    • Sugie K., Yamamoto A., Murayama K., et al. Clinicopathological features of genetically confirmed Danon disease. Neurology 58 (2002) 1773-1778
    • (2002) Neurology , vol.58 , pp. 1773-1778
    • Sugie, K.1    Yamamoto, A.2    Murayama, K.3
  • 102
    • 4544385218 scopus 로고    scopus 로고
    • Autophagy: many paths to the same end
    • Cuervo A.M. Autophagy: many paths to the same end. Mol Cell Biochem 263 (2004) 55-72
    • (2004) Mol Cell Biochem , vol.263 , pp. 55-72
    • Cuervo, A.M.1
  • 104
    • 0030943513 scopus 로고    scopus 로고
    • Usefulness of signal-averaged electrocardiography in evaluation of idiopathic-dilated cardiomyopathy in families
    • Yi G., Keeling P.J., Hnatkova K., et al. Usefulness of signal-averaged electrocardiography in evaluation of idiopathic-dilated cardiomyopathy in families. Am J Cardiol 79 (1997) 1203-1207
    • (1997) Am J Cardiol , vol.79 , pp. 1203-1207
    • Yi, G.1    Keeling, P.J.2    Hnatkova, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.