메뉴 건너뛰기




Volumn 17, Issue 8, 2006, Pages 919-926

Dilated cardiomyopathy: A tale of cytoskeletal proteins and beyond

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSKELETON PROTEIN;

EID: 33746038182     PISSN: 10453873     EISSN: 15408167     Source Type: Journal    
DOI: 10.1111/j.1540-8167.2006.00530.x     Document Type: Review
Times cited : (45)

References (127)
  • 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
    • Richardson P, McKenna W, Bristow M, et al: Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies. Circulation 1996;93:841-842.
    • (1996) Circulation , vol.93 , pp. 841-842
    • Richardson, P.1    McKenna, W.2    Bristow, M.3
  • 3
    • 0028041629 scopus 로고
    • Economic impact of heart failure in the United States: Time for a different approach
    • O'Connell JB, Bristow MR: Economic impact of heart failure in the United States: Time for a different approach. J Heart Lung Transplant 1994;13:S107-S112.
    • (1994) J Heart Lung Transplant , vol.13
    • O'Connell, J.B.1    Bristow, M.R.2
  • 5
    • 0037050022 scopus 로고    scopus 로고
    • The failing heart
    • Towbin JA, Bowles NE: The failing heart. Nature 2002;415:227-233.
    • (2002) Nature , vol.415 , pp. 227-233
    • Towbin, J.A.1    Bowles, N.E.2
  • 6
    • 0032006681 scopus 로고    scopus 로고
    • The role of cytoskeletal proteins in cardiomyopathies
    • Towbin JA: The role of cytoskeletal proteins in cardiomyopathies. Curr Opin Cell Biol 1998;10:131-139.
    • (1998) Curr Opin Cell Biol , vol.10 , pp. 131-139
    • Towbin, J.A.1
  • 7
    • 0030967587 scopus 로고    scopus 로고
    • Architecture and function in the muscle sarcomere
    • Squire JM: Architecture and function in the muscle sarcomere. Curr Opin Struct Biol 1997;7:247-257.
    • (1997) Curr Opin Struct Biol , vol.7 , pp. 247-257
    • Squire, J.M.1
  • 8
    • 0034285043 scopus 로고    scopus 로고
    • To the heart of myofibril assembly
    • Gregorio CC, Antin PB: To the heart of myofibril assembly. Trends Cell Biol 2000;10:355-362.
    • (2000) Trends Cell Biol , vol.10 , pp. 355-362
    • Gregorio, C.C.1    Antin, P.B.2
  • 9
    • 0028283285 scopus 로고
    • The muscle Z band: Lessons in stress management
    • Vigoreaux JO: The muscle Z band: Lessons in stress management. J Muscle Res Cell Motil 1994;15:237-255.
    • (1994) J Muscle Res Cell Motil , vol.15 , pp. 237-255
    • Vigoreaux, J.O.1
  • 10
    • 0036872241 scopus 로고    scopus 로고
    • Desmin cytoskeleton: A potential regulator of muscle mitochondrial behaviour and function
    • Capetanaki Y: Desmin cytoskeleton: A potential regulator of muscle mitochondrial behaviour and function. Trends Cardiovasc Med 2002;12:339-348.
    • (2002) Trends Cardiovasc Med , vol.12 , pp. 339-348
    • Capetanaki, Y.1
  • 11
    • 0027550657 scopus 로고
    • Intermediate filament structure and assembly
    • Stewart M: Intermediate filament structure and assembly. Curr Opin Cell Biol 1993;5:3-11.
    • (1993) Curr Opin Cell Biol , vol.5 , pp. 3-11
    • Stewart, M.1
  • 12
    • 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
  • 13
    • 16244380153 scopus 로고    scopus 로고
    • Muscular dystrophies related to the cytoskeleton/nuclear envelope
    • Nowak K, McCullagh K, Poon E, Davies KE: Muscular dystrophies related to the cytoskeleton/nuclear envelope. Novartis Found Symp 2005;264:98-111.
    • (2005) Novartis Found Symp , vol.264 , pp. 98-111
    • Nowak, K.1    McCullagh, K.2    Poon, E.3    Davies, K.E.4
  • 14
    • 0030981051 scopus 로고    scopus 로고
    • Dystrophies and heart disease
    • Cox GF, Kunkel LM: Dystrophies and heart disease. Curr Opin Cardiol 1997;12:329-343.
    • (1997) Curr Opin Cardiol , vol.12 , pp. 329-343
    • Cox, G.F.1    Kunkel, L.M.2
  • 16
    • 0034612267 scopus 로고    scopus 로고
    • Distinct patterns of dystrophin organization in myocyte sarcolemma and transverse tubules of normal and diseased human myocardium
    • Kaprielian RR, Stevenson S, Rothery SM, Cullen MJ, Severs NJ: Distinct patterns of dystrophin organization in myocyte sarcolemma and transverse tubules of normal and diseased human myocardium. Circulation 2000;101:2586-2594.
    • (2000) Circulation , vol.101 , pp. 2586-2594
    • Kaprielian, R.R.1    Stevenson, S.2    Rothery, S.M.3    Cullen, M.J.4    Severs, N.J.5
  • 17
    • 17544379921 scopus 로고    scopus 로고
    • The association of cardiac dystrophin with myofibrils/Z-discs regions in cardiac muscle suggests a novel role in the contractile apparatus
    • Meng H, Leddy JJ, Frank J, Holland P, Tuana BS: The association of cardiac dystrophin with myofibrils/Z-discs regions in cardiac muscle suggests a novel role in the contractile apparatus. J Biol Chem 1996;271:12364-12371.
    • (1996) J Biol Chem , vol.271 , pp. 12364-12371
    • Meng, H.1    Leddy, J.J.2    Frank, J.3    Holland, P.4    Tuana, B.S.5
  • 18
    • 0027533969 scopus 로고
    • Dystrophin-glycoprotein complex and laminin colocalize to the sarcolemma and transverse tubules of cardiac muscle
    • Klietsch R, Ervasti JM, Arnold W, Campbell KP, Jorgensen AO: Dystrophin-glycoprotein complex and laminin colocalize to the sarcolemma and transverse tubules of cardiac muscle. Circ Res 1993;72:349-360.
    • (1993) Circ Res , vol.72 , pp. 349-360
    • Klietsch, R.1    Ervasti, J.M.2    Arnold, W.3    Campbell, K.P.4    Jorgensen, A.O.5
  • 19
    • 0035798418 scopus 로고    scopus 로고
    • Specific interaction of the potassium channel beta-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system
    • Furukawa T, Ono Y, Tsuchiya H, et al: Specific interaction of the potassium channel beta-subunit minK with the sarcomeric protein T-cap suggests a T-tubule-myofibril linking system. J Mol Biol 2001;313:775-784.
    • (2001) J Mol Biol , vol.313 , pp. 775-784
    • Furukawa, T.1    Ono, Y.2    Tsuchiya, H.3
  • 20
    • 0036945719 scopus 로고    scopus 로고
    • Localization of sodium channels in intercalated disks modulates cardiac conduction
    • Kucera JP, Rohr S, Rudy Y: Localization of sodium channels in intercalated disks modulates cardiac conduction. Circ Res 2002;91:1176-1182.
    • (2002) Circ Res , vol.91 , pp. 1176-1182
    • Kucera, J.P.1    Rohr, S.2    Rudy, Y.3
  • 21
    • 0035114415 scopus 로고    scopus 로고
    • Voltage-gated sodium channel (SkM1) content in dystrophin-deficient muscle
    • Ribaux P, Bleicher F, Couble ML, et al: Voltage-gated sodium channel (SkM1) content in dystrophin-deficient muscle. Pflugers Arch 2001;441:746-755.
    • (2001) Pflugers Arch , vol.441 , pp. 746-755
    • Ribaux, P.1    Bleicher, F.2    Couble, M.L.3
  • 22
    • 3142580944 scopus 로고    scopus 로고
    • The potassium channel Kir4.1 associates with the dystrophin-glycoprotein complex via alpha-syntrophin in glia
    • Connors NC, Adams ME, Froehner SC, Kofuji P: The potassium channel Kir4.1 associates with the dystrophin-glycoprotein complex via alpha-syntrophin in glia. J Biol Chem 2004;279:28387-28392.
    • (2004) J Biol Chem , vol.279 , pp. 28387-28392
    • Connors, N.C.1    Adams, M.E.2    Froehner, S.C.3    Kofuji, P.4
  • 24
    • 0024422923 scopus 로고
    • Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. a population-based study in Olmsted County, Minnesota, 1975-1984
    • Codd MB, Sugrue DD, Gersh BJ, Melton LJ III: Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984. Circulation 1989;80:564-572.
    • (1989) Circulation , vol.80 , pp. 564-572
    • Codd, M.B.1    Sugrue, D.D.2    Gersh, B.J.3    Melton III, L.J.4
  • 25
    • 0345636017 scopus 로고    scopus 로고
    • The incidence of pediatric cardiomyopathy in two regions of the United States
    • Lipshultz SE, Sleeper LA, Towbin JA, et al: The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med 2003;348:1647-1655.
    • (2003) N Engl J Med , vol.348 , pp. 1647-1655
    • Lipshultz, S.E.1    Sleeper, L.A.2    Towbin, J.A.3
  • 26
    • 0037464530 scopus 로고    scopus 로고
    • The epidemiology of childhood cardiomyopathy in Australia
    • Nugent AW, Danbeney PEF, Chondros P, et al: The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 2003;348:1639-1646.
    • (2003) N Engl J Med , vol.348 , pp. 1639-1646
    • Nugent, A.W.1    Danbeney, P.E.F.2    Chondros, P.3
  • 27
    • 0031881631 scopus 로고    scopus 로고
    • Idiopathic dilated cardiomyopathy in children: Prognostic indicators and outcome
    • Arola A, Touminen J, Ruuskanen O, Jokinen E: Idiopathic dilated cardiomyopathy in children: Prognostic indicators and outcome. Pediatrics 1998;101:369-376.
    • (1998) Pediatrics , vol.101 , pp. 369-376
    • Arola, A.1    Touminen, J.2    Ruuskanen, O.3    Jokinen, E.4
  • 28
    • 0033838655 scopus 로고    scopus 로고
    • Incidence and epidemiology of heart failure
    • Kannel WB: Incidence and epidemiology of heart failure. Heart Fail Rev 2000;5:167-173.
    • (2000) Heart Fail Rev , vol.5 , pp. 167-173
    • Kannel, W.B.1
  • 29
    • 0023215347 scopus 로고
    • X-linked dilated cardiomyopathy
    • Berko BA, 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
  • 30
    • 0027193330 scopus 로고
    • X-linked dilated cardiomyopathy (XLCM): Molecular genetic evidence of linkage to the Duchenne muscular dystrophy gene at the Xp21 locus
    • Towbin JA, Hejtmancik JF, Brink P, et al: X-linked dilated cardiomyopathy (XLCM): Molecular genetic evidence of linkage to the Duchenne muscular dystrophy 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
  • 31
    • 0027265702 scopus 로고
    • Brief report: Deletion of the dystrophin muscle-specific promoter region associated with X-linked dilated cardiomyopathy
    • Muntoni F, Cau M, Ganau A, et al: Brief report: Deletion of the dystrophin muscle-specific promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med 1993;329:921-925.
    • (1993) N Engl J Med , vol.329 , pp. 921-925
    • Muntoni, F.1    Cau, M.2    Ganau, A.3
  • 32
    • 0030028518 scopus 로고    scopus 로고
    • A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy
    • Milasin J, Muntoni F, Severini CM, et al: A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum Mol Genet 1996;5:73-79.
    • (1996) Hum Mol Genet , vol.5 , pp. 73-79
    • Milasin, J.1    Muntoni, F.2    Severini, C.M.3
  • 33
    • 0030922569 scopus 로고    scopus 로고
    • Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy
    • Ortiz-Lopez R, Li H, Su J, Goytia V, Towbin JA: Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. Circulation 1997;95:2434-2440.
    • (1997) Circulation , vol.95 , pp. 2434-2440
    • Ortiz-Lopez, R.1    Li, H.2    Su, J.3    Goytia, V.4    Towbin, J.A.5
  • 34
    • 0032231396 scopus 로고    scopus 로고
    • A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy
    • Ferlini A, Galie N, Merlini L, et al: A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. Am J Hum Genet 1998;63:436-460.
    • (1998) Am J Hum Genet , vol.63 , pp. 436-460
    • Ferlini, A.1    Galie, N.2    Merlini, L.3
  • 35
    • 0031779422 scopus 로고    scopus 로고
    • Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy
    • Yoshida K, Nakamura A, Yazak M, et al: Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy. Hum Molec Med 1998;7:1129-1132.
    • (1998) Hum Molec Med , vol.7 , pp. 1129-1132
    • Yoshida, K.1    Nakamura, A.2    Yazak, M.3
  • 36
    • 0343963762 scopus 로고    scopus 로고
    • Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy
    • Franz W-M, Muller M, Muller AJ, et al: Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy. Lancet 2000;355:1781-1785.
    • (2000) Lancet , vol.355 , pp. 1781-1785
    • Franz, W.-M.1    Muller, M.2    Muller, A.J.3
  • 37
    • 0037130785 scopus 로고    scopus 로고
    • Comprehensive mu tation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy
    • Feng J, Yan J, Buzin CH, Sommer SS, Towbin JA: Comprehensive mu tation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy. J Am Coll Cardiol 2002;40:1120-1124.
    • (2002) J Am Coll Cardiol , vol.40 , pp. 1120-1124
    • Feng, J.1    Yan, J.2    Buzin, C.H.3    Sommer, S.S.4    Towbin, J.A.5
  • 38
    • 0023614188 scopus 로고
    • Dystrophin: The protein product of the Duchenne muscular dystrophy locus
    • Hoffman EP, Brown RH, Kunkel LM: Dystrophin: The protein product of the Duchenne muscular dystrophy locus. Cell 1987;51:919-928.
    • (1987) Cell , vol.51 , pp. 919-928
    • Hoffman, E.P.1    Brown, R.H.2    Kunkel, L.M.3
  • 39
    • 0028914964 scopus 로고
    • Three muscular dystrophies: Loss of cytoskeleton-extracellular matrix linkage
    • Campbell KP: Three muscular dystrophies: Loss of cytoskeleton- extracellular matrix linkage. Cell 1995;80:675-679.
    • (1995) Cell , vol.80 , pp. 675-679
    • Campbell, K.P.1
  • 40
    • 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
  • 43
    • 0038054542 scopus 로고    scopus 로고
    • Muscular dystrophies: Genes to pathogenesis
    • Dalkilic I, Kunkel LM: Muscular dystrophies: Genes to pathogenesis. Curr Opin Genet Dev 2003;13:231-238.
    • (2003) Curr Opin Genet Dev , vol.13 , pp. 231-238
    • Dalkilic, I.1    Kunkel, L.M.2
  • 44
    • 26444450721 scopus 로고    scopus 로고
    • Cardiomyopathy in dystrophin-deficient hearts is prevented by expression of a neuronal nitric oxide synthase transgene in the myocardium
    • Wehling-Henricks M, Jordan MC, Roos KP, Deng B, Tidball JG: Cardiomyopathy in dystrophin-deficient hearts is prevented by expression of a neuronal nitric oxide synthase transgene in the myocardium. Hum Mol Genet 2005;15:1921-1933.
    • (2005) Hum Mol Genet , vol.15 , pp. 1921-1933
    • Wehling-Henricks, M.1    Jordan, M.C.2    Roos, K.P.3    Deng, B.4    Tidball, J.G.5
  • 45
    • 7044223308 scopus 로고    scopus 로고
    • Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions
    • Torelli S, Brown SC, Jimenez-Mallebrera C, Geng L, Muntoni F, Sewry CA: Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions. Neuropathol Appl Neurobiol 2004;30:540-545.
    • (2004) Neuropathol Appl Neurobiol , vol.30 , pp. 540-545
    • Torelli, S.1    Brown, S.C.2    Jimenez-Mallebrera, C.3    Geng, L.4    Muntoni, F.5    Sewry, C.A.6
  • 46
    • 0034610326 scopus 로고    scopus 로고
    • Functional muscle ischemia in neuronal nitric oxide synthase-deficient skeletal muscle of children with Duchenne muscular dystrophy
    • USA
    • Sander M, Chavoshan B, Harris SA, Iannacoone ST, Stull JT, Thomas GD, Victor RG: 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 , vol.97 , pp. 13818-13823
    • Sander, M.1    Chavoshan, B.2    Harris, S.A.3    Iannacoone, S.T.4    Stull, J.T.5    Thomas, G.D.6    Victor, R.G.7
  • 47
    • 8044254229 scopus 로고    scopus 로고
    • Neuronal nitric oxide synthase and dystrophin-deficient muscular dystrophy
    • USA
    • Chang WJ, Iannaccone ST, Lau KS, et al: Neuronal nitric oxide synthase and dystrophin-deficient muscular dystrophy. Proc Natl Acad Sci USA 1996;93:9142-9147.
    • (1996) Proc Natl Acad Sci , vol.93 , pp. 9142-9147
    • Chang, W.J.1    Iannaccone, S.T.2    Lau, K.S.3
  • 48
    • 0023614271 scopus 로고
    • Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
    • Koenig M, Hoffman EP, Bertelson CJ, et al: Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-517.
    • (1987) Cell , vol.50 , pp. 509-517
    • Koenig, M.1    Hoffman, E.P.2    Bertelson, C.J.3
  • 50
    • 0031990542 scopus 로고    scopus 로고
    • Animal models of muscular dystrophies
    • Nonaka I: Animal models of muscular dystrophies. Lab Anim Sci 1998;48:8-17.
    • (1998) Lab Anim Sci , vol.48 , pp. 8-17
    • Nonaka, I.1
  • 51
    • 0242468210 scopus 로고    scopus 로고
    • Duchenne's muscular dystrophy: Animal models used to investigate pathogenesis and develop therapeutic strategies
    • Collins CA, Morgan JE: Duchenne's muscular dystrophy: Animal models used to investigate pathogenesis and develop therapeutic strategies. Int J Exp Pathol 2003;84:165-172.
    • (2003) Int J Exp Pathol , vol.84 , pp. 165-172
    • Collins, C.A.1    Morgan, J.E.2
  • 52
    • 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
  • 53
    • 9344268822 scopus 로고    scopus 로고
    • Regenerating more than muscle in muscular dystrophy
    • Heydemann A, McNally EM: Regenerating more than muscle in muscular dystrophy. Circulation 2004;110:3290-3292.
    • (2004) Circulation , vol.110 , pp. 3290-3292
    • Heydemann, A.1    McNally, E.M.2
  • 54
    • 0027533969 scopus 로고
    • Dystrophin-glycoprotein complex and laminin colocalize to the sarcolemma and transverse tubules of cardiac muscle
    • Klietsch R, Ervasti JM, Arnold W, Campbell KP, Jorgensen AO: Dystrophin-glycoprotein complex and laminin colocalize to the sarcolemma and transverse tubules of cardiac muscle. Circ Res 1993;72:349-360.
    • (1993) Circ Res , vol.72 , pp. 349-360
    • Klietsch, R.1    Ervasti, J.M.2    Arnold, W.3    Campbell, K.P.4    Jorgensen, A.O.5
  • 55
    • 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
  • 56
    • 0027460658 scopus 로고
    • Dystrophin protects the sarcolemma from stresses developed during muscle contraction
    • USA
    • Petrof BJ, Shrager JB, Stedman HH, Kelly AM, Sweeny HL: Dystrophin protects the sarcolemma from stresses developed during muscle contraction. Proc Natl Acad Sci USA 1993;90:3710-3714.
    • (1993) Proc Natl Acad Sci , vol.90 , pp. 3710-3714
    • Petrof, B.J.1    Shrager, J.B.2    Stedman, H.H.3    Kelly, A.M.4    Sweeny, H.L.5
  • 57
    • 4143054600 scopus 로고    scopus 로고
    • Role of contraction-induced injury in the mechanisms of muscle damage in muscular dystrophy
    • Lynch GS: Role of contraction-induced injury in the mechanisms of muscle damage in muscular dystrophy. Clin Exp Pharmacol Physiol 2004;31:557-561.
    • (2004) Clin Exp Pharmacol Physiol , vol.31 , pp. 557-561
    • Lynch, G.S.1
  • 58
    • 0347915657 scopus 로고    scopus 로고
    • Loss of dystrophin causes aberrant mechanotransduction in skeletal muscle fibers
    • Kumar A, Khanadelwal N, Malya R, Reid MB, Boriek AM: Loss of dystrophin causes aberrant mechanotransduction in skeletal muscle fibers. FASEB J 2004;18:102-113.
    • (2004) FASEB J , vol.18 , pp. 102-113
    • Kumar, A.1    Khanadelwal, N.2    Malya, R.3    Reid, M.B.4    Boriek, A.M.5
  • 59
    • 0033933967 scopus 로고    scopus 로고
    • The "Final Common Pathway" hypothesis and inherited cardiovascular disease: The role of cytoskeletal proteins in dilated cardiomyopathy
    • Bowles NE, Bowles KR, Towbin JA: The "Final Common Pathway" hypothesis and inherited cardiovascular disease: The role of cytoskeletal proteins in dilated cardiomyopathy. Herz 2000;25:168-175.
    • (2000) Herz , vol.25 , pp. 168-175
    • Bowles, N.E.1    Bowles, K.R.2    Towbin, J.A.3
  • 60
    • 0033017374 scopus 로고    scopus 로고
    • Enteroviral protease 2A cleaves dystrophin: Evidence of cytoskeletal disruption in an acquired cardiomyopathy
    • Badorff C, Lee GH, Lamphear BJ, et al: Enteroviral protease 2A cleaves dystrophin: Evidence of cytoskeletal disruption in an acquired cardiomyopathy. Nat Med 1999;5:320-326.
    • (1999) Nat Med , vol.5 , pp. 320-326
    • Badorff, C.1    Lee, G.H.2    Lamphear, B.J.3
  • 61
    • 0036344498 scopus 로고    scopus 로고
    • Dystrophin deficiency markedly increases enterovirus-induced cardiomyopathy: A genetic predisposition to viral heart disease
    • Xiong D, Lee GH, Badorff C, et al: Dystrophin deficiency markedly increases enterovirus-induced cardiomyopathy: A genetic predisposition to viral heart disease. Nat Med 2002;8:872-877.
    • (2002) Nat Med , vol.8 , pp. 872-877
    • Xiong, D.1    Lee, G.H.2    Badorff, C.3
  • 62
    • 0028145745 scopus 로고
    • A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1
    • Kass S, MacRae C, Graber HL, et al: A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1-1q1. Nat Genet 1994;7:546-551.
    • (1994) Nat Genet , vol.7 , pp. 546-551
    • Kass, S.1    MacRae, C.2    Graber, H.L.3
  • 63
    • 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 1999;34:1715-1724.
    • (1999) N Engl J Med , vol.34 , pp. 1715-1724
    • Fatkin, D.1    MacRae, C.2    Sasaki, T.3
  • 64
    • 0022579313 scopus 로고
    • Evolution of hereditary cardiac conduction and muscle disorder: A study involving a family with 6 generations affected
    • Graber HL, Unverferth DV, Baker PB, Ryan JM, Baba N, Wooley CF: Evolution of hereditary cardiac conduction and muscle disorder: A study involving a family with 6 generations affected. Circulation 1986;74:21-35.
    • (1986) Circulation , vol.74 , pp. 21-35
    • Graber, H.L.1    Unverferth, D.V.2    Baker, P.B.3    Ryan, J.M.4    Baba, N.5    Wooley, C.F.6
  • 66
    • 8344234298 scopus 로고    scopus 로고
    • Genetics of dilated cardiomyopathy: More genes that kill
    • Towbin JA, Solaro RJ: Genetics of dilated cardiomyopathy: More genes that kill. J Am Coll Cardiol 2004;44:2041-2043.
    • (2004) J Am Coll Cardiol , vol.44 , pp. 2041-2043
    • Towbin, J.A.1    Solaro, R.J.2
  • 67
    • 0036787237 scopus 로고    scopus 로고
    • Molecular mechanisms of inherited cardiomyopathies
    • Fatkin D, Graham RM: Molecular mechanisms of inherited cardiomyopathies. Physiol Rev 2002;82:945-980.
    • (2002) Physiol Rev , vol.82 , pp. 945-980
    • Fatkin, D.1    Graham, R.M.2
  • 68
    • 0033818186 scopus 로고    scopus 로고
    • Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy
    • Tsubata S, Bowles KR, Vatta M, et al: Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest 2000;106:655-662.
    • (2000) J Clin Invest , vol.106 , pp. 655-662
    • Tsubata, S.1    Bowles, K.R.2    Vatta, M.3
  • 69
    • 0142058043 scopus 로고    scopus 로고
    • Mutations in the muscle LIM protein and α-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis
    • Mohapatra B, Jimenez S, Lin JH, et al: Mutations in the muscle LIM protein and α-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis. Mol Genet Metab 2003;80:207-215.
    • (2003) Mol Genet Metab , vol.80 , pp. 207-215
    • Mohapatra, B.1    Jimenez, S.2    Lin, J.H.3
  • 70
    • 0032076955 scopus 로고    scopus 로고
    • Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
    • Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT: Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 1998;280:750-752.
    • (1998) Science , vol.280 , pp. 750-752
    • Olson, T.M.1    Michels, V.V.2    Thibodeau, S.N.3    Tai, Y.S.4    Keating, M.T.5
  • 71
    • 0033520037 scopus 로고    scopus 로고
    • Desmin mutations responsible for idiopathic dilated cardiomyopathy
    • Li D, Tapscott T, Gonzalez O, et al: Desmin mutations responsible for idiopathic dilated cardiomyopathy. Circulation 1999;100:461-464.
    • (1999) Circulation , vol.100 , pp. 461-464
    • Li, D.1    Tapscott, T.2    Gonzalez, O.3
  • 72
    • 0034619996 scopus 로고    scopus 로고
    • Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy
    • Kamisago M, Sharma SD, DePalma SR, et al: Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med 2000;343:1688-1696.
    • (2000) N Engl J Med , vol.343 , pp. 1688-1696
    • Kamisago, M.1    Sharma, S.D.2    Depalma, S.R.3
  • 73
    • 0036478897 scopus 로고    scopus 로고
    • Mutations of TTN encoding the giant muscle filament titin, cause familial dilated cardiomyopathy
    • Gerul B, Gramlich M, Atherton J, 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
    • Gerul, B.1    Gramlich, M.2    Atherton, J.3
  • 75
    • 30944440078 scopus 로고    scopus 로고
    • Novel mutations in the β-myosin heavy chain and myosin binding protein C gene are associated with dilated cardiomyopathy
    • Regitz-Zagrosek V, Daehmlow S, Knueppel T, et al: Novel mutations in the β-myosin heavy chain and myosin binding protein C gene are associated with dilated cardiomyopathy. Circulation 2001;104(Suppl II):II-572.
    • (2001) Circulation , vol.104 , Issue.2 SUPPL.
    • Regitz-Zagrosek, V.1    Daehmlow, S.2    Knueppel, T.3
  • 76
    • 0034971165 scopus 로고    scopus 로고
    • Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy
    • Olson TM, Kishimoto NY, Whitby FG, Michels W: Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol 2001;33:723-732.
    • (2001) J Mol Cell Cardiol , vol.33 , pp. 723-732
    • Olson, T.M.1    Kishimoto, N.Y.2    Whitby, F.G.3    Michels, W.4
  • 77
    • 0037470512 scopus 로고    scopus 로고
    • Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban
    • Schmitt JP, Kamisago M, Asahi M, et al: Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science 2003;299:1410-1413.
    • (2003) Science , vol.299 , pp. 1410-1413
    • Schmitt, J.P.1    Kamisago, M.2    Asahi, M.3
  • 79
    • 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
  • 80
    • 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, 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
  • 81
    • 1842434556 scopus 로고    scopus 로고
    • Smooth muscle cell-extrinsic vascular spasms arise from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy
    • Wheeler MT, Allikian MJ, Heydemann A, Hadhazy M, Zarnegar S, McNally EM: Smooth muscle cell-extrinsic vascular spasms arise from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy. J Clin Invest 2004;113:668-675.
    • (2004) J Clin Invest , vol.113 , pp. 668-675
    • Wheeler, M.T.1    Allikian, M.J.2    Heydemann, A.3    Hadhazy, M.4    Zarnegar, S.5    McNally, E.M.6
  • 82
    • 8244259185 scopus 로고    scopus 로고
    • Identification of the Syrian hamster cardiomyopathy gene
    • Nigro V, Okazaki Y, Belsito A, et al: Identification of the Syrian hamster cardiomyopathy gene. Hum Mol Genet 1997;6:601-607.
    • (1997) Hum Mol Genet , vol.6 , pp. 601-607
    • Nigro, V.1    Okazaki, Y.2    Belsito, A.3
  • 83
    • 0031471956 scopus 로고    scopus 로고
    • Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: An animal model of disrupted dystrophin-associated glycoprotein complex
    • USA
    • Sakamoto A, Ono K, Abe M, et al: Both hypertrophic and dilated cardiomyopathies are caused by mutation of the same gene, delta-sarcoglycan, in hamster: An animal model of disrupted dystrophin-associated glycoprotein complex. Proc Natl Acad Sci USA 1997;94:13873-13878.
    • (1997) Proc Natl Acad Sci , vol.94 , pp. 13873-13878
    • Sakamoto, A.1    Ono, K.2    Abe, M.3
  • 84
    • 0032973716 scopus 로고    scopus 로고
    • Delineation of genomic deletion in cardiomyopathic hamster
    • Sakamoto A, Abe M, Masaki T: Delineation of genomic deletion in cardiomyopathic hamster. FEBS Lett 1999;447:124-128.
    • (1999) FEBS Lett , vol.447 , pp. 124-128
    • Sakamoto, A.1    Abe, M.2    Masaki, T.3
  • 85
    • 10544235436 scopus 로고    scopus 로고
    • Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy
    • Jung D, Duclos F, Apostal B, et al: Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy. J Biol Chem 1996;271:32321-32329.
    • (1996) J Biol Chem , vol.271 , pp. 32321-32329
    • Jung, D.1    Duclos, F.2    Apostal, B.3
  • 86
    • 0029816797 scopus 로고    scopus 로고
    • Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene
    • Nigro V, de Sa Moreira E, Piluso G, et al: Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet 1996;14:195-198.
    • (1996) Nat Genet , vol.14 , pp. 195-198
    • Nigro, V.1    De Sa Moreira, E.2    Piluso, G.3
  • 87
    • 3843052495 scopus 로고    scopus 로고
    • Comparative biochemical analysis suggests that vinculin and metavinculin cooperate in muscular adhesion sites
    • Witt S, Zieseniss A, Fock U, Jockusch BM, Illenberger S: Comparative biochemical analysis suggests that vinculin and metavinculin cooperate in muscular adhesion sites. J Biol Chem 2004;279:31533-31543.
    • (2004) J Biol Chem , vol.279 , pp. 31533-31543
    • Witt, S.1    Zieseniss, A.2    Fock, U.3    Jockusch, B.M.4    Illenberger, S.5
  • 88
    • 0031034388 scopus 로고    scopus 로고
    • Dilated cardiomyopathy associated with deficiency of the cytoskeletal protein metavinculin
    • Maeda M, Holder E, Lowes B, Valent S, Bies RD: Dilated cardiomyopathy associated with deficiency of the cytoskeletal protein metavinculin. Circulation 1997;95:17-20.
    • (1997) Circulation , vol.95 , pp. 17-20
    • Maeda, M.1    Holder, E.2    Lowes, B.3    Valent, S.4    Bies, R.D.5
  • 89
    • 17444415361 scopus 로고    scopus 로고
    • Spectirn, alpha-actinin, and dystrophin
    • Broderick MJ, Winder SJ: Spectirn, alpha-actinin, and dystrophin. Adv Protein Chem 2005;70:203-246.
    • (2005) Adv Protein Chem , vol.70 , pp. 203-246
    • Broderick, M.J.1    Winder, S.J.2
  • 90
    • 85047687537 scopus 로고    scopus 로고
    • Human phospholamban null results in lethal diliated cardiomyopathy revealing a critical difference between mouse and human
    • Haghighi K, Kolokathis F, Pater L, et al: Human phospholamban null results in lethal diliated cardiomyopathy revealing a critical difference between mouse and human. J Clin Invest 2003;111:869-876.
    • (2003) J Clin Invest , vol.111 , pp. 869-876
    • Haghighi, K.1    Kolokathis, F.2    Pater, L.3
  • 91
    • 0842283230 scopus 로고    scopus 로고
    • Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy
    • Murphy RT, Mogensen J, Shaw A, et al: Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet 2004;363:371-372.
    • (2004) Lancet , vol.363 , pp. 371-372
    • Murphy, R.T.1    Mogensen, J.2    Shaw, A.3
  • 92
    • 1242320058 scopus 로고    scopus 로고
    • At the crossroads of myocardial signaling: The role of Z-discs in intracellular signaling and cardiac function
    • Pyle WG, Solaro RJ: At the crossroads of myocardial signaling: The role of Z-discs in intracellular signaling and cardiac function. Circ Res 2004;94:296-305.
    • (2004) Circ Res , vol.94 , pp. 296-305
    • Pyle, W.G.1    Solaro, R.J.2
  • 93
    • 0037184992 scopus 로고    scopus 로고
    • The cardiac mechanical stretch sensor machinery involves a Z-disc complex that is defective in a subset of human dilated cardiomyopathy
    • Knoll R, Hoshijima M, Hoffman HM, et al: The cardiac mechanical stretch sensor machinery involves a Z-disc complex that is defective in a subset of human dilated cardiomyopathy. Cell 2002;11:943-955.
    • (2002) Cell , vol.11 , pp. 943-955
    • Knoll, R.1    Hoshijima, M.2    Hoffman, H.M.3
  • 94
    • 0030933063 scopus 로고    scopus 로고
    • MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure
    • Arber S, Hunter JJ, Ross J Jr, et al: MLP-deficient mice exhibit a disruption of cardiac cytoarchitectural organization, dilated cardiomyopathy, and heart failure. Cell 1997;88:393-403.
    • (1997) Cell , vol.88 , pp. 393-403
    • Arber, S.1    Hunter, J.J.2    Ross Jr., J.3
  • 95
    • 0034643946 scopus 로고    scopus 로고
    • Decreased expression of the cardiac LIM domain protein MLP in chronic human heart failure
    • Zolk O, Caroni P, Bohm M: Decreased expression of the cardiac LIM domain protein MLP in chronic human heart failure. Circulation 2000;101:2674-2677.
    • (2000) Circulation , vol.101 , pp. 2674-2677
    • Zolk, O.1    Caroni, P.2    Bohm, M.3
  • 96
    • 0034643873 scopus 로고    scopus 로고
    • Cytoskeletal abnormalities in the failing heart. Out on a LIM?
    • Katz AM: Cytoskeletal abnormalities in the failing heart. Out on a LIM? Circulation 2000;101:2672-2673.
    • (2000) Circulation , vol.101 , pp. 2672-2673
    • Katz, A.M.1
  • 97
    • 0344873698 scopus 로고    scopus 로고
    • Mutations in cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction
    • Vatta M, Mohapatra B, Jimenez S, et al: Mutations in cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol 2003;42:2014-2027.
    • (2003) J Am Coll Cardiol , vol.42 , pp. 2014-2027
    • Vatta, M.1    Mohapatra, B.2    Jimenez, S.3
  • 98
    • 84924110084 scopus 로고    scopus 로고
    • Ablation of cyipher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy
    • Zhou Q, Chu PH, Huang C, et al: Ablation of cyipher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy. J Cell Biol 2001;155:605-612.
    • (2001) J Cell Biol , vol.155 , pp. 605-612
    • Zhou, Q.1    Chu, P.H.2    Huang, C.3
  • 100
    • 1242342244 scopus 로고    scopus 로고
    • The grant protein titin: A major player in myocardial mechanics, signaling, and disease
    • Granzier H, Labeit S: The grant protein titin: A major player in myocardial mechanics, signaling, and disease. Circ Res 2004;94:284-295.
    • (2004) Circ Res , vol.94 , pp. 284-295
    • Granzier, H.1    Labeit, S.2
  • 101
    • 0033358083 scopus 로고    scopus 로고
    • Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel ocus on chromosomes 2q14-q22
    • Jung M, Poepping I, Perrot A, Ellmer AE, Wienker TF, Dietz R, Reis A, Oserziel KJ: Investigation of a family with autosomal dominant dilated cardiomyopathy defines a novel ocus on chromosomes 2q14-q22. Am J Hum Genet 1999;65:1068-1077.
    • (1999) Am J Hum Genet , vol.65 , pp. 1068-1077
    • Jung, M.1    Poepping, I.2    Perrot, A.3    Ellmer, A.E.4    Wienker, T.F.5    Dietz, R.6    Reis, A.7    Oserziel, K.J.8
  • 102
    • 0030031004 scopus 로고    scopus 로고
    • Mapping a cardiomyopathy locus to chromosome 3p22-p25
    • Olson TM, Keating MT: Mapping a cardiomyopathy locus to chromosome 3p22-p25. J Clin Invest 1996;97:528-532.
    • (1996) J Clin Invest , vol.97 , pp. 528-532
    • Olson, T.M.1    Keating, M.T.2
  • 103
    • 0030882270 scopus 로고    scopus 로고
    • Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23
    • Messina DN, Speer MC, Pericak-Vance MA, McNally EM: 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
  • 104
    • 0034620567 scopus 로고    scopus 로고
    • Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
    • Brodsky GL, 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
  • 106
    • 0031686054 scopus 로고    scopus 로고
    • Nuclear lamins: Their structure, assembly and interactions
    • Stuurman N, Heins S, Aebi U: Nuclear lamins: Their structure, assembly and interactions. J Struct Biol 1998;122:42-66.
    • (1998) J Struct Biol , vol.122 , pp. 42-66
    • Stuurman, N.1    Heins, S.2    Aebi, U.3
  • 107
    • 16244387631 scopus 로고    scopus 로고
    • Components of the nuclear envelope and their role in human disease
    • Worman HJ: Components of the nuclear envelope and their role in human disease. Novartis Found Symp 2005;264:35-42.
    • (2005) Novartis Found Symp , vol.264 , pp. 35-42
    • Worman, H.J.1
  • 109
    • 0032977685 scopus 로고    scopus 로고
    • Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
    • Bonne G, DiBarletta MR, Varnous S, et al: Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999;21: 285-288.
    • (1999) Nat Genet , vol.21 , pp. 285-288
    • Bonne, G.1    DiBarletta, M.R.2    Varnous, S.3
  • 110
    • 0033927867 scopus 로고    scopus 로고
    • Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
    • Di Barletta R, 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 2000;66:1407-1412.
    • (2000) Am J Hum Genet , vol.66 , pp. 1407-1412
    • Di Barletta, R.1    Ricci, E.2    Galluzzi, G.3
  • 111
    • 0034702027 scopus 로고    scopus 로고
    • Identification of mutations in the gene encoding lamin A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbance (LGMD1B)
    • Muchir A, Bonne G, van der Kooi AJ, et al: Identification of mutations in the gene encoding lamin A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbance (LGMD1B). Hum Mol Genet 2000;9:1453-1459.
    • (2000) Hum Mol Genet , vol.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    Van Der Kooi, A.J.3
  • 113
    • 0032858915 scopus 로고    scopus 로고
    • Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy
    • Novak KJ, Wattanasikichaigood D, Goebel HH, et al: Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 1999;23:208-212.
    • (1999) Nat Genet , vol.23 , pp. 208-212
    • Novak, K.J.1    Wattanasikichaigood, D.2    Goebel, H.H.3
  • 114
    • 17344373157 scopus 로고    scopus 로고
    • Missense mutations in desmin associated with familial cardiac and skeletal myopathy
    • Goldfarb LG, Park K-Y, Cervenakova L, et al: Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet 1998;19:402-403.
    • (1998) Nat Genet , vol.19 , pp. 402-403
    • Goldfarb, L.G.1    Park, K.-Y.2    Cervenakova, L.3
  • 117
    • 0020974404 scopus 로고
    • An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes
    • Barth PG, Scholte HR, Berden JA, et al: An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leukocytes. J Neurol Sci 1983;62:327-355.
    • (1983) J Neurol Sci , vol.62 , pp. 327-355
    • Barth, P.G.1    Scholte, H.R.2    Berden, J.A.3
  • 119
    • 13144260646 scopus 로고    scopus 로고
    • Mutations in ZASP define a novel form of muscular dystrophy in humans
    • Selcen D, Engel AG: Mutations in ZASP define a novel form of muscular dystrophy in humans. Ann Neurol 2005;57:269-276.
    • (2005) Ann Neurol , vol.57 , pp. 269-276
    • Selcen, D.1    Engel, A.G.2
  • 121
    • 0036723943 scopus 로고    scopus 로고
    • Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the grant skeletal muscle protein titin
    • Hackman P, Vihola A, Haravuori H, et al: Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the grant skeletal muscle protein titin. Am J Hum Genet 2002;71:492-500.
    • (2002) Am J Hum Genet , vol.71 , pp. 492-500
    • Hackman, P.1    Vihola, A.2    Haravuori, H.3
  • 122
    • 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, 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
  • 123
    • 0035707910 scopus 로고    scopus 로고
    • The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin
    • Garvey SM, Rajan C, Lerner AP, Frankel WN, Cox GA: The muscular dystrophy with myositis (mdm) mouse mutation disrupts a skeletal muscle-specific domain of titin. Genomics 2002;79:146-149.
    • (2002) Genomics , vol.79 , pp. 146-149
    • Garvey, S.M.1    Rajan, C.2    Lerner, A.P.3    Frankel, W.N.4    Cox, G.A.5
  • 124
    • 0029738727 scopus 로고    scopus 로고
    • Disruption of muscle architecture and myocardial degeneration in mice lacking desmin
    • Milner DJ, Weitzer G, Tran D, Bradley A, Capetanaki Y: Disruption of muscle architecture and myocardial degeneration in mice lacking desmin. J Cell Biol 1996;134:1255-1270.
    • (1996) J Cell Biol , vol.134 , pp. 1255-1270
    • Milner, D.J.1    Weitzer, G.2    Tran, D.3    Bradley, A.4    Capetanaki, Y.5
  • 125
    • 2542559620 scopus 로고    scopus 로고
    • Dystrophin disruption in enterovirus-induced myocarditis and dilated cardiomyopathy: From bench to bedside
    • Berl
    • Badorff C, Knowlton KU: Dystrophin disruption in enterovirus-induced myocarditis and dilated cardiomyopathy: From bench to bedside. Med Microbiol Immunol (Berl) 2004;193:121-126.
    • (2004) Med Microbiol Immunol , vol.193 , pp. 121-126
    • Badorff, C.1    Knowlton, K.U.2
  • 126
    • 0037117144 scopus 로고    scopus 로고
    • Molecular remodeling of dystrophin in patients with end-stage cardiomyopathies and reversal for patients on assist device therapy
    • Vatta M, Stetson SJ, Perez-Verdra A, et al: Molecular remodeling of dystrophin in patients with end-stage cardiomyopathies and reversal for patients on assist device therapy. Lancet 2000;359:936-941.
    • (2000) Lancet , vol.359 , pp. 936-941
    • Vatta, M.1    Stetson, S.J.2    Perez-Verdra, A.3
  • 127
    • 1542331747 scopus 로고    scopus 로고
    • Molecular normalization of dystrophin in the failing left and right ventricle of patients treated with either pulsatile or continuous flow-type ventricular assist devices
    • Vatta M, Stetson SJ, Jimenez S, et al: Molecular normalization of dystrophin in the failing left and right ventricle of patients treated with either pulsatile or continuous flow-type ventricular assist devices. J Am Coll Cardiol 2004;43:811-817.
    • (2004) J Am Coll Cardiol , vol.43 , pp. 811-817
    • Vatta, M.1    Stetson, S.J.2    Jimenez, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.