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Volumn , Issue , 2007, Pages 67-80

Genetic Basis and Genotype-Phenotype Relationships in Familial Hypertrophic Cardiomyopathy

Author keywords

Cardiac troponin; Contractile proteins; Genotype phenotype relationships; Morbid genes; Mutations

Indexed keywords


EID: 33444470457     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9780470987469.ch3     Document Type: Chapter
Times cited : (3)

References (76)
  • 1
    • 0024426784 scopus 로고
    • Mapping a gene for familial hypertrophic cardio-myopathy to chromosome 14ql
    • Jarcho JA, McKenna W, Pare JAP et al. Mapping a gene for familial hypertrophic cardio-myopathy to chromosome 14ql. N Engl J Med 1989; 321: 1372-8.
    • (1989) N Engl J Med , vol.321 , pp. 1372-1378
    • Jarcho, J.A.1    McKenna, W.2    Pare, J.A.P.3
  • 2
    • 0027420155 scopus 로고
    • A disease locus for familial hypertrophic car-diomyopathy maps to chromosome 1q3
    • Watkins H, MacRae C, Thierfelder L et al. A disease locus for familial hypertrophic car-diomyopathy maps to chromosome 1q3. Nat Genet 1993; 3: 333-7.
    • (1993) Nat Genet , vol.3 , pp. 333-337
    • Watkins, H.1    MacRae, C.2    Thierfelder, L.3
  • 3
    • 0027180678 scopus 로고
    • A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2
    • Thierfelder L, MacRae C, Watkins H et al. A familial hypertrophic cardiomyopathy locus maps to chromosome 15q2. Proc Natl Acad Sci USA 1993; 90: 6270-4.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 6270-6274
    • Thierfelder, L.1    MacRae, C.2    Watkins, H.3
  • 4
    • 0027161005 scopus 로고
    • Mapping of a novel gene for familial hy-pertrophic cardiomyopathy to chromosome 11
    • Carrier L, Hengstenberg C, Beckmann JS et al. Mapping of a novel gene for familial hy-pertrophic cardiomyopathy to chromosome 11. Nat Genet 1993; 4: 311-13.
    • (1993) Nat Genet , vol.4 , pp. 311-313
    • Carrier, L.1    Hengstenberg, C.2    Beckmann, J.S.3
  • 5
    • 0025040392 scopus 로고
    • A molecular basis for familial hyper-trophic cardiomyopathy: A P cardiac myosin heavy chain gene missense mutation
    • Geisterfer-Lowrance AAT, Kass S, Tanigawa G et al. A molecular basis for familial hyper-trophic cardiomyopathy: A P cardiac myosin heavy chain gene missense mutation. Cell 1990; 62: 999-1006.
    • (1990) Cell , vol.62 , pp. 999-1006
    • Geisterfer-Lowrance, A.A.T.1    Kass, S.2    Tanigawa, G.3
  • 6
    • 0028178083 scopus 로고
    • Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
    • Thierfelder L, Watkins H, MacRae C et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere. Cell 1994; 77: 701-12.
    • (1994) Cell , vol.77 , pp. 701-712
    • Thierfelder, L.1    Watkins, H.2    MacRae, C.3
  • 7
    • 0028886136 scopus 로고
    • Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
    • Bonne G, Carrier L, Bercovici J et al. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat Genet 1995; 11: 438-40.
    • (1995) Nat Genet , vol.11 , pp. 438-440
    • Bonne, G.1    Carrier, L.2    Bercovici, J.3
  • 8
    • 0028844204 scopus 로고
    • Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy
    • Watkins H, Conner D, Thierfelder L et al. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat Genet 1995; 11: 434-7.
    • (1995) Nat Genet , vol.11 , pp. 434-437
    • Watkins, H.1    Conner, D.2    Thierfelder, L.3
  • 9
    • 0032555955 scopus 로고    scopus 로고
    • Familial hypertrophic cardiomyopathy: From mutations to functional defects
    • Bonne G, Carrier L, Richard P et al. Familial hypertrophic cardiomyopathy: From mutations to functional defects. Circ Res 1998; 83: 579-593.
    • (1998) Circ Res , vol.83 , pp. 579-593
    • Bonne, G.1    Carrier, L.2    Richard, P.3
  • 10
    • 0035936792 scopus 로고    scopus 로고
    • The genetic basis for cardiomyopathy: From mutation identifi-cation to mechanistic paradigms
    • Seidman JG, Seidman CE. The genetic basis for cardiomyopathy: From mutation identifi-cation to mechanistic paradigms. Cell 2001; 104: 557-67.
    • (2001) Cell , vol.104 , pp. 557-567
    • Seidman, J.G.1    Seidman, C.E.2
  • 11
    • 15844400653 scopus 로고    scopus 로고
    • Mutation in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
    • Poetter K, Jiang H, Hassanzadeh S et al. Mutation in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet 1996; 13: 63-9.
    • (1996) Nat Genet , vol.13 , pp. 63-69
    • Poetter, K.1    Jiang, H.2    Hassanzadeh, S.3
  • 12
    • 15644366960 scopus 로고    scopus 로고
    • Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy
    • Flavigny J, Richard P, Isnard R et al. Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy. J Mol Med 1998; 76: 208-14.
    • (1998) J Mol Med , vol.76 , pp. 208-214
    • Flavigny, J.1    Richard, P.2    Isnard, R.3
  • 13
    • 18744433901 scopus 로고    scopus 로고
    • Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
    • Mogensen J, Klausen IC, Pedersen AK et al. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest 1999; 103: R39-R43.
    • (1999) J Clin Invest , vol.103 , pp. R39-R43
    • Mogensen, J.1    Klausen, I.C.2    Pedersen, A.K.3
  • 14
    • 0030765610 scopus 로고    scopus 로고
    • Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
    • Kimura A, Harada H, Park JE et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet 1997; 16: 379-82.
    • (1997) Nat Genet , vol.16 , pp. 379-382
    • Kimura, A.1    Harada, H.2    Park, J.E.3
  • 15
    • 0033610050 scopus 로고    scopus 로고
    • Structural analysis of the titin gene in hypertrophic cardiomyopathy: Identification of a novel disease gene
    • Satoh M, Takahashi M, Sakamoto T et al. Structural analysis of the titin gene in hypertrophic cardiomyopathy: Identification of a novel disease gene. Biochem Biophys Res Commun 1999; 262: 411-17.
    • (1999) Biochem Biophys Res Commun , vol.262 , pp. 411-417
    • Satoh, M.1    Takahashi, M.2    Sakamoto, T.3
  • 16
    • 0035378612 scopus 로고    scopus 로고
    • First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
    • Hoffmann B, Schmidt-Traub H, Perrot A et al. First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. Hum Mutat 2001; 17: 524.
    • (2001) Hum Mutat , vol.17 , pp. 524
    • Hoffmann, B.1    Schmidt-Traub, H.2    Perrot, A.3
  • 17
    • 82955242198 scopus 로고    scopus 로고
    • Sarcomere protein gene mutations: A frequent cause of elderly-onset hypertrophic cardiomyopathy
    • Patton KK, Niimura H, Soults J et al. Sarcomere protein gene mutations: A frequent cause of elderly-onset hypertrophic cardiomyopathy. Circulation 2000; 102 (Suppl. II): 178.
    • (2000) Circulation , vol.102 , pp. 178
    • Patton, K.K.1    Niimura, H.2    Soults, J.3
  • 18
    • 0035872209 scopus 로고    scopus 로고
    • Mutations in the y2-subunit of AMP-activated pro-tein kinase cause familial hypertrophic cardiomyopathy: Evidence for the central role of energy compromise in disease pathogenesis
    • Blair E, Redwood C, Ashrafian H et al. Mutations in the y2-subunit of AMP-activated pro-tein kinase cause familial hypertrophic cardiomyopathy: Evidence for the central role of energy compromise in disease pathogenesis. Hum Mol Genet 2001; 10: 1215-20.
    • (2001) Hum Mol Genet , vol.10 , pp. 1215-1220
    • Blair, E.1    Redwood, C.2    Ashrafian, H.3
  • 19
    • 0035859215 scopus 로고    scopus 로고
    • Identification of a gene responsible for familial Wolff-Parkinson-White syndrome
    • Gollob MH, Green MS, Tang ASL et al. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med 2001; 344: 1823-64.
    • (2001) N Engl J Med , vol.344 , pp. 1823-1864
    • Gollob, M.H.1    Green, M.S.2    Tang, A.S.L.3
  • 20
    • 0032852041 scopus 로고    scopus 로고
    • An online locus-specific mutation database for familial hypertrophic cardiomyopathy
    • Fung DC, Yu B, Littlejohn T et al. An online locus-specific mutation database for familial hypertrophic cardiomyopathy. Hum Mutat 1999; 14: 326-32.
    • (1999) Hum Mutat , vol.14 , pp. 326-332
    • Fung, D.C.1    Y.u., B.2    Littlejohn, T.3
  • 21
    • 0028332683 scopus 로고
    • Possible gene dose effect of a mutant cardiac P-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy
    • Nishi H, Kimura A, Harada H et al. Possible gene dose effect of a mutant cardiac P-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy. Biochem Biophys Res Commun 1994; 200: 549-56.
    • (1994) Biochem Biophys Res Commun , vol.200 , pp. 549-556
    • Nishi, H.1    Kimura, A.2    Harada, H.3
  • 22
    • 0031922826 scopus 로고    scopus 로고
    • A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated P-myosin heavy chain genes
    • Jeschke B, Uhl K, Weist B et al. A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated P-myosin heavy chain genes. Hum Genet 1998; 102: 299-304.
    • (1998) Hum Genet , vol.102 , pp. 299-304
    • Jeschke, B.1    Uhl, K.2    Weist, B.3
  • 23
    • 0033005768 scopus 로고    scopus 로고
    • Double heterozygosity for mutations in the beta myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy
    • Richard P, Isnard R, Carrier L et al. Double heterozygosity for mutations in the beta myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy. J Med Genet 1999; 36: 542-5.
    • (1999) J Med Genet , vol.36 , pp. 542-545
    • Richard, P.1    Isnard, R.2    Carrier, L.3
  • 24
    • 0033851630 scopus 로고    scopus 로고
    • Homozygotes for a R869G mutation in the beta-myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy
    • Richard P, Charron P, Leclercq C et al. Homozygotes for a R869G mutation in the beta-myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy. J Mol Cell Cardiol 2000; 32: 1575-83.
    • (2000) J Mol Cell Cardiol , vol.32 , pp. 1575-1583
    • Richard, P.1    Charron, P.2    Leclercq, C.3
  • 26
    • 0034099847 scopus 로고    scopus 로고
    • First description of a germ line mosaicism in familial hypertrophic cardiomyopathy
    • Forissier J-F, Richard P, Briault S et al. First description of a germ line mosaicism in familial hypertrophic cardiomyopathy. J Med Genet 2000; 37: 132-4.
    • (2000) J Med Genet , vol.37 , pp. 132-134
    • Forissier, J.-F.1    Richard, P.2    Briault, S.3
  • 27
    • 0034710851 scopus 로고    scopus 로고
    • Novel mutation in the a-tropomyosin gene and transition from hypertrophic to hypocontractile dilated cardiomyopathy
    • Regitz-Zagrosek V, Erdmann J, Wellnhofer E et al. Novel mutation in the a-tropomyosin gene and transition from hypertrophic to hypocontractile dilated cardiomyopathy. Cir-culation 2000; 102: e112-6.
    • (2000) Cir-culation , vol.102 , pp. e112-e116
    • Regitz-Zagrosek, V.1    Erdmann, J.2    Wellnhofer, E.3
  • 28
    • 0032076955 scopus 로고    scopus 로고
    • Actin mutations in dilated cardiomyopathy, a heritable form of heart failure
    • Olson TM, Michels VV, Thibodeau SN et al. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 1998; 280: 750-2.
    • (1998) Science , vol.280 , pp. 750-752
    • Olson, T.M.1    Michels, V.V.2    Thibodeau, S.N.3
  • 29
    • 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: 1688-96.
    • (2000) N Engl J Med , vol.343 , pp. 1688-1696
    • Kamisago, M.1    Sharma, S.D.2    DePalma, S.R.3
  • 30
    • 0027302431 scopus 로고
    • Skeletal muscle expression and abnormal function of P-myosin in hypertrophic cardiomyopathy
    • Cuda G, Fananapazir L, Zhu WS et al. Skeletal muscle expression and abnormal function of P-myosin in hypertrophic cardiomyopathy. J Clin Invest 1993; 91: 2861-5.
    • (1993) J Clin Invest , vol.91 , pp. 2861-2865
    • Cuda, G.1    Fananapazir, L.2    Zhu, W.S.3
  • 31
    • 0031883848 scopus 로고    scopus 로고
    • A mutant tropomyosin that causes hyper-trophic cardiomyopathy is expressed in vivo and associated with increased calcium sensitivity
    • Bottinelli R, Coviello DA, Redwood CS et al. A mutant tropomyosin that causes hyper-trophic cardiomyopathy is expressed in vivo and associated with increased calcium sensitivity. Circ Res 1998; 82: 106-15.
    • (1998) Circ Res , vol.82 , pp. 106-115
    • Bottinelli, R.1    Coviello, D.A.2    Redwood, C.S.3
  • 32
    • 0030852878 scopus 로고    scopus 로고
    • Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization of cardiac transcript and protein
    • Rottbauer W, Gautel M, Zehelein J et al. Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization of cardiac transcript and protein. J Clin Invest 1997; 100: 475-82.
    • (1997) J Clin Invest , vol.100 , pp. 475-482
    • Rottbauer, W.1    Gautel, M.2    Zehelein, J.3
  • 33
    • 0034724252 scopus 로고    scopus 로고
    • A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance
    • Moolman JA, Reith S, Uhl K et al. A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance. Circulation 2000; 101: 1396-402.
    • (2000) Circulation , vol.101 , pp. 1396-1402
    • Moolman, J.A.1    Reith, S.2    Uhl, K.3
  • 34
    • 0032189352 scopus 로고    scopus 로고
    • A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy
    • Yang Q, Sanbe A, Osinska H et al. A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy. J Clin Invest 1998; 102: 1292-300.
    • (1998) J Clin Invest , vol.102 , pp. 1292-1300
    • Yang, Q.1    Sanbe, A.2    Osinska, H.3
  • 35
    • 0033607481 scopus 로고    scopus 로고
    • COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes
    • Flavigny J, Souchet M, Sébillon P et al. COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes. J Mol Biol 1999; 294: 443-56.
    • (1999) J Mol Biol , vol.294 , pp. 443-456
    • Flavigny, J.1    Souchet, M.2    Sébillon, P.3
  • 36
    • 0032749319 scopus 로고    scopus 로고
    • In vivo modeling of myosin binding protein C familial hypertrophic cardiomyopathy
    • Yang Q, Sanbe A, Osinska H et al. In vivo modeling of myosin binding protein C familial hypertrophic cardiomyopathy. Circ Res 1999; 85: 841-7.
    • (1999) Circ Res , vol.85 , pp. 841-847
    • Yang, Q.1    Sanbe, A.2    Osinska, H.3
  • 37
    • 0035793919 scopus 로고    scopus 로고
    • Comparison of two murine models of familial hypertrophic cardiomyopathy
    • McConnell BK, Fatkin D, Semsarian C et al. Comparison of two murine models of familial hypertrophic cardiomyopathy. Circ Res 2001; 88: 383-9.
    • (2001) Circ Res , vol.88 , pp. 383-389
    • McConnell, B.K.1    Fatkin, D.2    Semsarian, C.3
  • 38
    • 0035107566 scopus 로고    scopus 로고
    • COOH-terminal truncated human cardiac MyBP-C alters myosin filament organization
    • Sebillon P, Bonne G, Flavigny J et al. COOH-terminal truncated human cardiac MyBP-C alters myosin filament organization. C R Acad Sci 2001; 324: 251-60.
    • (2001) C R Acad Sci , vol.324 , pp. 251-260
    • Sebillon, P.1    Bonne, G.2    Flavigny, J.3
  • 39
    • 0030842476 scopus 로고    scopus 로고
    • Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population
    • Charron P, Dubourg O, Desnos M et al. Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population. Circulation 1997; 96: 214-19.
    • (1997) Circulation , vol.96 , pp. 214-219
    • Charron, P.1    Dubourg, O.2    Desnos, M.3
  • 40
    • 0029879075 scopus 로고    scopus 로고
    • Malignant familial hypertrophic cardiomyopathy in a family with a Arg453Cys mutation in the P-myosin heavy chain gene: Coexistence of sudden death and end-stage heart failure
    • Ko YL, Chen JJ, Tang TK et al. Malignant familial hypertrophic cardiomyopathy in a family with a Arg453Cys mutation in the P-myosin heavy chain gene: Coexistence of sudden death and end-stage heart failure. Hum Gen 1996; 97: 585-90.
    • (1996) Hum Gen , vol.97 , pp. 585-590
    • Ko, Y.L.1    Chen, J.J.2    Tang, T.K.3
  • 41
    • 0028140230 scopus 로고
    • Genotype-phenotype correlations in hypertrophic car-diomyopathy: Insights provided by comparisons of kindreds with distinct and identical P-myosin heavy chain gene mutations
    • Fananapazir L, Epstein ND. Genotype-phenotype correlations in hypertrophic car-diomyopathy: Insights provided by comparisons of kindreds with distinct and identical P-myosin heavy chain gene mutations. Circulation 1994; 89: 22-32.
    • (1994) Circulation , vol.89 , pp. 22-32
    • Fananapazir, L.1    Epstein, N.D.2
  • 42
    • 0031114657 scopus 로고    scopus 로고
    • Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy
    • Abchee A, Marian AJ. Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy. J Invest Med 1997; 45: 191-6.
    • (1997) J Invest Med , vol.45 , pp. 191-196
    • Abchee, A.1    Marian, A.J.2
  • 43
    • 7844238274 scopus 로고    scopus 로고
    • Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardio-myopathy
    • Tesson F, Richard P, Charron P et al. Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardio-myopathy. Hum Mutat 1998; 12: 385-92.
    • (1998) Hum Mutat , vol.12 , pp. 385-392
    • Tesson, F.1    Richard, P.2    Charron, P.3
  • 45
    • 0033577957 scopus 로고    scopus 로고
    • Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His P-cardiac myosin heavy chain mutation
    • Gruver EJ, Fatkin D, Dodds GA et al. Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His P-cardiac myosin heavy chain mutation. Am J Cardiol 1999; 83 (12A): 13H-18H.
    • (1999) Am J Cardiol , vol.83 , Issue.12 A , pp. 13H-18H
    • Gruver, E.J.1    Fatkin, D.2    Dodds, G.A.3
  • 46
    • 0026629472 scopus 로고
    • Difference in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the P-myosin heavy chain gene: A Leu908Val mutation and an Arg403Gly mutation
    • Epstein ND, Cohn GM, Cyran F et al. Difference in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the P-myosin heavy chain gene: A Leu908Val mutation and an Arg403Gly mutation. Circulation 1992; 86: 345-52.
    • (1992) Circulation , vol.86 , pp. 345-352
    • Epstein, N.D.1    Cohn, G.M.2    Cyran, F.3
  • 47
    • 0028902929 scopus 로고
    • Mutations in the genes for cardiac troponin T and a-tropomyosin in hypertrophic cardiomyopathy
    • Watkins H, McKenna WJ, Thierfelder L et al. Mutations in the genes for cardiac troponin T and a-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med 1995; 332: 1058-64.
    • (1995) N Engl J Med , vol.332 , pp. 1058-1064
    • Watkins, H.1    McKenna, W.J.2    Thierfelder, L.3
  • 49
    • 0035354329 scopus 로고    scopus 로고
    • The Val606Met mutation in the cardiac P-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age
    • Havndrup O, Bundgaard H, Andersen PS et al. The Val606Met mutation in the cardiac P-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age. Am J Cardiol 2001; 87: 1315-17.
    • (2001) Am J Cardiol , vol.87 , pp. 1315-1317
    • Havndrup, O.1    Bundgaard, H.2    Andersen, P.S.3
  • 50
    • 0030882952 scopus 로고    scopus 로고
    • Sudden cardiac death in familial hypertrophic cardiomyopathy: Are 'benign' mutations really benign?
    • Semsarian C, Yu B, Ryce C, Lawrence C et al. Sudden cardiac death in familial hypertrophic cardiomyopathy: Are 'benign' mutations really benign? Pathology 1997; 29: 305-8.
    • (1997) Pathology , vol.29 , pp. 305-308
    • Semsarian, C.1    Y.u., B.2    Ryce, C.3    Lawrence, C.4
  • 51
    • 0032499634 scopus 로고    scopus 로고
    • Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene
    • Charron P, Dubourg O, Desnos M et al. Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene. Circulation 1998; 97: 2230-6.
    • (1998) Circulation , vol.97 , pp. 2230-2236
    • Charron, P.1    Dubourg, O.2    Desnos, M.3
  • 52
    • 0034907103 scopus 로고    scopus 로고
    • Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy
    • Erdmann J, Raible J, Maki-Abadi J et al. Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. J Am Coll Cardiol 2001; 38: 322-30.
    • (2001) J Am Coll Cardiol , vol.38 , pp. 322-330
    • Erdmann, J.1    Raible, J.2    Maki-Abadi, J.3
  • 54
    • 0032725342 scopus 로고    scopus 로고
    • A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy
    • Varnava A, Baboonian C, Davison F et al. A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. Heart 1999; 82: 621-4.
    • (1999) Heart , vol.82 , pp. 621-624
    • Varnava, A.1    Baboonian, C.2    Davison, F.3
  • 55
    • 0032483037 scopus 로고    scopus 로고
    • Patients with familial hypertrophic cardiomyopathy caused by a Phe110Ile missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis
    • Anan R, Shono H, Kisanuki A et al. Patients with familial hypertrophic cardiomyopathy caused by a Phe110Ile missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis. Circulation 1998; 98: 391-7.
    • (1998) Circulation , vol.98 , pp. 391-397
    • Anan, R.1    Shono, H.2    Kisanuki, A.3
  • 56
    • 0034622609 scopus 로고    scopus 로고
    • Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene
    • Kokado H, Shimizu M, Yoshio H et al. Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene.Circulation 2000; 102: 663-9.
    • (2000) Circulation , vol.102 , pp. 663-669
    • Kokado, H.1    Shimizu, M.2    Yoshio, H.3
  • 57
    • 0035830394 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy caused by a novel a-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling and poor prognosis
    • Karibe A, Tobacman LS, Strand J et al. Hypertrophic cardiomyopathy caused by a novel a-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling and poor prognosis. Circulation 2001; 103: 65-71.
    • (2001) Circulation , vol.103 , pp. 65-71
    • Karibe, A.1    Tobacman, L.S.2    Strand, J.3
  • 58
    • 0029794498 scopus 로고    scopus 로고
    • Clinical implications of hypertrophic cardiomyopathy associated with mutations in the a-tropomyosin gene
    • Yamauchi-Takihara K, Nakajima-Taniguchi C, Matsui H et al. Clinical implications of hypertrophic cardiomyopathy associated with mutations in the a-tropomyosin gene. Heart 1996; 76: 63-5.
    • (1996) Heart , vol.76 , pp. 63-65
    • Yamauchi-Takihara, K.1    Nakajima-Taniguchi, C.2    Matsui, H.3
  • 59
    • 0031042881 scopus 로고    scopus 로고
    • Clinical features of hypertrophic cardiomyopathy caused by mutation of a 'hot spot' in the a-tropomyosin gene
    • Coviello DA, Maron BJ, Spirito P et al. Clinical features of hypertrophic cardiomyopathy caused by mutation of a 'hot spot' in the a-tropomyosin gene. J Am Coll Cardiol 1997; 29: 635-40.
    • (1997) J Am Coll Cardiol , vol.29 , pp. 635-640
    • Coviello, D.A.1    Maron, B.J.2    Spirito, P.3
  • 60
    • 18744433901 scopus 로고    scopus 로고
    • Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy
    • Mogensen J, Klausen IC, Pedersen AK et al. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. J Clin Invest 1999; 103: R39-43.
    • (1999) J Clin Invest , vol.103 , pp. R39-43
    • Mogensen, J.1    Klausen, I.C.2    Pedersen, A.K.3
  • 61
    • 0035147108 scopus 로고    scopus 로고
    • Different expressivity of a ventricular essential myosin light chain gene Ala57Gly mutation in familial hypertrophic cardiomyopathy
    • Lee W, Hwang TH, Kimura A et al. Different expressivity of a ventricular essential myosin light chain gene Ala57Gly mutation in familial hypertrophic cardiomyopathy. Am Heart J 2001; 141: 184-9.
    • (2001) Am Heart J , vol.141 , pp. 184-189
    • Lee, W.1    Hwang, T.H.2    Kimura, A.3
  • 62
    • 0032032248 scopus 로고    scopus 로고
    • Familial hypertrophic cardiomyopathy. Cardiac ultrasonic abnormalities in genetically affected subjects without echocardiographic evidence of left ventricular hypertrophy
    • Hagege AA, Dubourg O, Desnos M et al. Familial hypertrophic cardiomyopathy. Cardiac ultrasonic abnormalities in genetically affected subjects without echocardiographic evidence of left ventricular hypertrophy. Eur Heart J 1998; 19: 490-9.
    • (1998) Eur Heart J , vol.19 , pp. 490-499
    • Hagege, A.A.1    Dubourg, O.2    Desnos, M.3
  • 63
    • 0032580520 scopus 로고    scopus 로고
    • Mutations in the gene for human cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy
    • Niimura H, Bachinski LL, Sangwatanaroj S et al. Mutations in the gene for human cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 1998; 338: 1248-57.
    • (1998) N Engl J Med , vol.338 , pp. 1248-1257
    • Niimura, H.1    Bachinski, L.L.2    Sangwatanaroj, S.3
  • 64
    • 0034900986 scopus 로고    scopus 로고
    • Development of left ventricular hypertrophy in adults with hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations
    • Maron BJ, Niimura H, Casey SA et al. Development of left ventricular hypertrophy in adults with hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. J Am Coll Cardiol 2001; 38: 315-21.
    • (2001) J Am Coll Cardiol , vol.38 , pp. 315-321
    • Maron, B.J.1    Niimura, H.2    Casey, S.A.3
  • 65
    • 0033798520 scopus 로고    scopus 로고
    • Phenotypic variation of familial hypertrophic cardio-myopathy caused by the Phe(110)Ile mutation in cardiac troponin T
    • Lin T, Ichihara S, Yamada Y et al. Phenotypic variation of familial hypertrophic cardio-myopathy caused by the Phe(110)Ile mutation in cardiac troponin T. Cardiology 2000; 93: 155-62.
    • (2000) Cardiology , vol.93 , pp. 155-162
    • Lin, T.1    Ichihara, S.2    Yamada, Y.3
  • 66
    • 0027425610 scopus 로고
    • Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death
    • Marian AJ, Yu Q-T, Workman R et al. Angiotensin-converting enzyme polymorphism in hypertrophic cardiomyopathy and sudden cardiac death. Lancet 1993; 342: 1085-6.
    • (1993) Lancet , vol.342 , pp. 1085-1086
    • Marian, A.J.1    Y.u., Q.-T.2    Workman, R.3
  • 67
    • 0029149023 scopus 로고
    • Angiotensin-I converting enzyme genotypes and left ventricular hypertrophy in patients with hypertrophic cardiomyopathy
    • Lechin M, Quinones MA, Omran A et al. Angiotensin-I converting enzyme genotypes and left ventricular hypertrophy in patients with hypertrophic cardiomyopathy. Circulation 1995; 92: 1802-12.
    • (1995) Circulation , vol.92 , pp. 1802-1812
    • Lechin, M.1    Quinones, M.A.2    Omran, A.3
  • 68
    • 0028784754 scopus 로고
    • Angiotensin-converting enzyme gene polymor-phism in Japanese patients with hypertrophic cardiomyopathy
    • Yonega K, Okamoto H, Machida M et al. Angiotensin-converting enzyme gene polymor-phism in Japanese patients with hypertrophic cardiomyopathy. Am Heart J 1995; 130: 1089-93.
    • (1995) Am Heart J , vol.130 , pp. 1089-1093
    • Yonega, K.1    Okamoto, H.2    Machida, M.3
  • 69
    • 0031080069 scopus 로고    scopus 로고
    • The influence of the angiotensin I converting en-zyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation
    • Tesson F, Dufour C, Moolman JC et al. The influence of the angiotensin I converting en-zyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation. J Mol Cell Cardiol 1997; 29: 831-8.
    • (1997) J Mol Cell Cardiol , vol.29 , pp. 831-838
    • Tesson, F.1    Dufour, C.2    Moolman, J.C.3
  • 70
    • 0031301663 scopus 로고    scopus 로고
    • Role of candidate modifier genes on the phenotypic expression of hypertrophy in patients with hypertrophic cardiomyopathy
    • Brugada R, Kelsey W, Lechin M et al. Role of candidate modifier genes on the phenotypic expression of hypertrophy in patients with hypertrophic cardiomyopathy. J Investig Med 1997; 45: 542-51.
    • (1997) J Investig Med , vol.45 , pp. 542-551
    • Brugada, R.1    Kelsey, W.2    Lechin, M.3
  • 71
    • 0034502439 scopus 로고    scopus 로고
    • Variants of trophic factors and expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy
    • Patel R, Lim DS, Reddy D et al. Variants of trophic factors and expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy. J Mol Cell Cardiol 2000; 32: 2369-677.
    • (2000) J Mol Cell Cardiol , vol.32 , pp. 2369-2677
    • Patel, R.1    Lim, D.S.2    Reddy, D.3
  • 72
    • 8544283018 scopus 로고    scopus 로고
    • Penetrance of familial hypertrophic cardiomyopa-thy
    • Charron P, Carrier L, Dubourg O et al. Penetrance of familial hypertrophic cardiomyopa-thy. Genet Couns 1997; 8: 107-14.
    • (1997) Genet Couns , vol.8 , pp. 107-114
    • Charron, P.1    Carrier, L.2    Dubourg, O.3
  • 73
    • 0029807438 scopus 로고    scopus 로고
    • Mice expressing mutant myosin heavy chains are a model for familial hypertrophic cardiomyopathy
    • Vikstrom KL, Factor SM, Leinwand LA. Mice expressing mutant myosin heavy chains are a model for familial hypertrophic cardiomyopathy. Mol Med 1996; 2: 556-67.
    • (1996) Mol Med , vol.2 , pp. 556-567
    • Vikstrom, K.L.1    Factor, S.M.2    Leinwand, L.A.3
  • 74
    • 0037134832 scopus 로고    scopus 로고
    • Prevalence and age-dependence of ma-lignant mutations in the beta-myosin heavy chain and troponin T gene in hypertrophic cardiomyopathy: A comprehensive outstanding perspective
    • Ackerman MJ, VanDriest SL, Ommen SR et al. Prevalence and age-dependence of ma-lignant mutations in the beta-myosin heavy chain and troponin T gene in hypertrophic cardiomyopathy: A comprehensive outstanding perspective. J Am Coll Cardiol 2002; 39: 2049-51.
    • (2002) J Am Coll Cardiol , vol.39 , pp. 2049-2051
    • Ackerman, M.J.1    VanDriest, S.L.2    Ommen, S.R.3
  • 75
    • 0037058868 scopus 로고    scopus 로고
    • Prevalence and severity of 'benign' mu-tations in the ß-myosin heavy chain, cardiac troponin T and a-tropomyosin genes in hypertrophic cardiomyopathy
    • Van Driest BA, Ackerman MJ, Ommen SR et al. Prevalence and severity of 'benign' mu-tations in the ß-myosin heavy chain, cardiac troponin T and a-tropomyosin genes in hypertrophic cardiomyopathy. Circulation 2002; 106: 3085.
    • (2002) Circulation , vol.106 , pp. 3085
    • Van Driest, B.A.1    Ackerman, M.J.2    Ommen, S.R.3
  • 76
    • 0037453074 scopus 로고    scopus 로고
    • Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy
    • Geier C, Perrot A, Özcelik C et al. Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Circulation 2003; 107: 1390-5.
    • (2003) Circulation , vol.107 , pp. 1390-1395
    • Geier, C.1    Perrot, A.2    Özcelik, C.3


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