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Volumn 119, Issue 21, 2006, Pages 1785-1789

Mutation of Arg723Gly in β-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy

Author keywords

Cardiomyopathy; Familial; Genotype; Hypertrophic; Mutation; Myosin heavy chain; Phenotype

Indexed keywords

AMINO ACID; ARGININE; CYTOSINE; GLYCINE; GUANINE; MYOSIN HEAVY CHAIN BETA;

EID: 33751103906     PISSN: 03666999     EISSN: None     Source Type: Journal    
DOI: 10.1097/00029330-200611010-00004     Document Type: Article
Times cited : (6)

References (21)
  • 1
    • 0029083650 scopus 로고
    • Prevalence of hypertrophic cardiomyopathy in a general population of young adults: Echocardiographic analysis of 4111 subjects in the CADIA study: Coronary artery risk development in (young) adults
    • Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults: echocardiographic analysis of 4111 subjects in the CADIA study: coronary artery risk development in (young) adults. Circulation 1995; 92: 785-789.
    • (1995) Circulation , vol.92 , pp. 785-789
    • Maron, B.J.1    Gardin, J.M.2    Flack, J.M.3    Gidding, S.S.4    Kurosaki, T.T.5    Bild, D.E.6
  • 2
    • 9144224799 scopus 로고    scopus 로고
    • Prevalence of idiopathic hypertrophic cardiomyopathy in China: A population-based echocardiographicanalysis of 8080 adults
    • Zou Y, Song L, Wang Z, Ma A, Liu T, Gu H, et al. Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographicanalysis of 8080 adults. Am J Med 2004; 116: 14-18.
    • (2004) Am J Med , vol.116 , pp. 14-18
    • Zou, Y.1    Song, L.2    Wang, Z.3    Ma, A.4    Liu, T.5    Gu, H.6
  • 3
    • 0348230980 scopus 로고    scopus 로고
    • Clinical characteristics of and long-term outcome in Chinese patients with hypertrophic cardiomyopathy
    • Ho HH, Lee KL, Lau CP, Tse HF. Clinical characteristics of and long-term outcome in Chinese patients with hypertrophic cardiomyopathy. Am J Med 2004; 116: 19-23.
    • (2004) Am J Med , vol.116 , pp. 19-23
    • Ho, H.H.1    Lee, K.L.2    Lau, C.P.3    Tse, H.F.4
  • 4
    • 14644412418 scopus 로고    scopus 로고
    • MYBPC3 polymorphism is a modifier for expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy
    • Wang P, Zou Y, Fu Z, Zhou X, Hui R. MYBPC3 polymorphism is a modifier for expression of cardiac hypertrophy in patients with hypertrophic cardiomyopathy. Biochem Biophys Res Commun 2005; 329: 796-799.
    • (2005) Biochem Biophys Res Commun , vol.329 , pp. 796-799
    • Wang, P.1    Zou, Y.2    Fu, Z.3    Zhou, X.4    Hui, R.5
  • 5
    • 0029166817 scopus 로고
    • Recent advances in the molecular genetics of hypertrophic cardiomyopathy
    • Marian AJ, Roberts R. Recent advances in the molecular genetics of hypertrophic cardiomyopathy. Circulation 1995; 92:1336-1347.
    • (1995) Circulation , vol.92 , pp. 1336-1347
    • Marian, A.J.1    Roberts, R.2
  • 6
    • 0032428460 scopus 로고    scopus 로고
    • Molecular genetic studies of familial hypertrophic cardiomyopathy
    • Seidman CE, Seidman JG. Molecular genetic studies of familial hypertrophic cardiomyopathy. Basic Res Cardiol 1998; 93 Suppl 3: 13-16.
    • (1998) Basic Res Cardiol , vol.93 , Issue.SUPPL. 3 , pp. 13-16
    • Seidman, C.E.1    Seidman, J.G.2
  • 7
    • 9444255079 scopus 로고    scopus 로고
    • Mutations profile in Chinese patients with hypertrophic cardiomyopathy
    • Song L, Zou Y, Wang J, Wang Z, Zhen Y, Lou K, et al. Mutations profile in Chinese patients with hypertrophic cardiomyopathy. Clinica Chimica Acta 2005; 351: 209-216.
    • (2005) Clinica Chimica Acta , vol.351 , pp. 209-216
    • Song, L.1    Zou, Y.2    Wang, J.3    Wang, Z.4    Zhen, Y.5    Lou, K.6
  • 8
    • 0025007358 scopus 로고
    • The complete sequence of the human beta-myosin heavy chain gene and an analysis of its product
    • Jaenicke T, Diederich KW, Haas W, Schleich J, Lichter P, Pfordt M, et al. The complete sequence of the human beta-myosin heavy chain gene and an analysis of its product. Genomics 1990; 8: 194-206.
    • (1990) Genomics , vol.8 , pp. 194-206
    • Jaenicke, T.1    Diederich, K.W.2    Haas, W.3    Schleich, J.4    Lichter, P.5    Pfordt, M.6
  • 10
    • 0035149929 scopus 로고    scopus 로고
    • Hypertrophic cardiomyopathy: From molecular and genetic mechanisms to clinical management
    • Watkins H. Hypertrophic cardiomyopathy: from molecular and genetic mechanisms to clinical management. Eur Heart J Suppl 2001; 3 Suppl L: L43-L50.
    • (2001) Eur Heart J Suppl , vol.3 , Issue.SUPPL. L
    • Watkins, H.1
  • 12
    • 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, Lamas R, McKenna W, Vosberg HP, et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial. hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994; 77: 701-712.
    • (1994) Cell , vol.77 , pp. 701-712
    • Thierfelder, L.1    Watkins, H.2    MacRae, C.3    Lamas, R.4    McKenna, W.5    Vosberg, H.P.6
  • 13
    • 0027226230 scopus 로고
    • Structure of the actin-myosin complex and its implications for muscle contraction
    • Rayment I, Holden HM, Whittaker M, Yohn CB, Lorenz M, Holmes KC, et al. Structure of the actin-myosin complex and its implications for muscle contraction. Science 1993; 261: 58-65.
    • (1993) Science , vol.261 , pp. 58-65
    • Rayment, I.1    Holden, H.M.2    Whittaker, M.3    Yohn, C.B.4    Lorenz, M.5    Holmes, K.C.6
  • 14
    • 0036872230 scopus 로고    scopus 로고
    • Functional consequences of mutations in the myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy
    • Lowey S. Functional consequences of mutations in the myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy. Trends Cardiovasc Med 2002; 12: 348-354.
    • (2002) Trends Cardiovasc Med , vol.12 , pp. 348-354
    • Lowey, S.1
  • 15
  • 16
    • 28744454411 scopus 로고    scopus 로고
    • Ala26Val mutation in beta - Myosin heavy chain gene: A hot spot mutation in Chinese hypertrophic cardiomyopathy
    • Zou YB, Wang JZ, Wu PX, Zheng WY, Lu SL, Hui RT, et al. Ala26Val mutation in beta - myosin heavy chain gene: a hot spot mutation in Chinese hypertrophic cardiomyopathy Chin J Cardiol (Chin) 2002; 30: 473-476.
    • (2002) Chin J Cardiol (Chin) , vol.30 , pp. 473-476
    • Zou, Y.B.1    Wang, J.Z.2    Wu, P.X.3    Zheng, W.Y.4    Lu, S.L.5    Hui, R.T.6
  • 17
    • 28744458739 scopus 로고    scopus 로고
    • The genotype-phynotype correlation of the beta-myosin heavy chain gene Arg663Cys and Arg663His mutation in familial hypertrophic cardiomyopathy
    • Song L, Xu R, Wu GR, Wang JZ, Zheng WY, Zou YB, et al. The genotype-phynotype correlation of the beta-myosin heavy chain gene Arg663Cys and Arg663His mutation in familial hypertrophic cardiomyopathy. Chin J Cardiol (Chin) 2002; 30: 131-135.
    • (2002) Chin J Cardiol (Chin) , vol.30 , pp. 131-135
    • Song, L.1    Xu, R.2    Wu, G.R.3    Wang, J.Z.4    Zheng, W.Y.5    Zou, Y.B.6
  • 18
    • 33751092367 scopus 로고    scopus 로고
    • Mutations in the gene encoding for cardiac beta-myosin heavy chain in Chinese families with hypertrophic cardiomyopathy
    • Song L, Huang XH, Hui RT, Gao JH, Zheng WY, Teng SY, at al. Mutations in the gene encoding for cardiac beta-myosin heavy chain in Chinese families with hypertrophic cardiomyopathy. Chin J Cardiol (Chin) 2001; 29: 348-352.
    • (2001) Chin J Cardiol (Chin) , vol.29 , pp. 348-352
    • Song, L.1    Huang, X.H.2    Hui, R.T.3    Gao, J.H.4    Zheng, W.Y.5    Teng, S.Y.6
  • 19
    • 0029999338 scopus 로고    scopus 로고
    • Missense mutation in the cardiac β-myosin heavy chain gene in patient with hypertrophic cadiomyopathy
    • Kuang SQ, Yu JD, Lu L, He RM, Gong LS, Chen SJ, et al. Missense mutation in the cardiac β-myosin heavy chain gene in patient with hypertrophic cadiomyopathy. Chin J Cardiol (Chin) 1996; 24: 111-114.
    • (1996) Chin J Cardiol (Chin) , vol.24 , pp. 111-114
    • Kuang, S.Q.1    Yu, J.D.2    Lu, L.3    He, R.M.4    Gong, L.S.5    Chen, S.J.6
  • 20
    • 33751071186 scopus 로고    scopus 로고
    • Mutations in beta myosin heavy chain gene: One mutation lle736Thr identified firstly in Chinese with hypertrophic cardiomyopathy and the correlation between their genotype and phynotype
    • Xie WL, Liu WL, Hu DY, Cui W, Zhu TG, Fan DY, et al. Mutations in beta myosin heavy chain gene: one mutation lle736Thr identified firstly in Chinese with hypertrophic cardiomyopathy and the correlation between their genotype and phynotype. Chin J Cardiol (Chin) 2004; 12: 1087-1089.
    • (2004) Chin J Cardiol (Chin) , vol.12 , pp. 1087-1089
    • Xie, W.L.1    Liu, W.L.2    Hu, D.Y.3    Cui, W.4    Zhu, T.G.5    Fan, D.Y.6
  • 21
    • 0035921154 scopus 로고    scopus 로고
    • A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gin cardiac beta-myosin heavy-chain mutation in a Chinese family
    • Huang XH, Song L, Ma AQ, Gao JH, Zheng WY, Zhou XL, et al. A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gin cardiac beta-myosin heavy-chain mutation in a Chinese family. Clinica Chimica Acta 2001; 310: 131-139.
    • (2001) Clinica Chimica Acta , vol.310 , pp. 131-139
    • Huang, X.H.1    Song, L.2    Ma, A.Q.3    Gao, J.H.4    Zheng, W.Y.5    Zhou, X.L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.