메뉴 건너뛰기




Volumn 76, Issue 3-4, 1998, Pages 208-214

Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy

Author keywords

Cardiomyopathy; Chromosome 12; Genetic localization; Haplotype analysis; Hypertrophied ventricle; Regulatory myosin light chain

Indexed keywords

MYOSIN LIGHT CHAIN;

EID: 15644366960     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001090050210     Document Type: Article
Times cited : (120)

References (31)
  • 2
    • 0023130164 scopus 로고
    • Hypertrophic cardiomyopathy: Interrelations of clinical manifestations, pathophysiology, and therapy
    • Maron BJ, Bonow RO, Cannon RO, Leon MB, Epstein SE (1987) Hypertrophic cardiomyopathy: interrelations of clinical manifestations, pathophysiology, and therapy. N Engl J Med 316:780-789, 844-852
    • (1987) N Engl J Med , vol.316 , pp. 780-789
    • Maron, B.J.1    Bonow, R.O.2    Cannon, R.O.3    Leon, M.B.4    Epstein, S.E.5
  • 3
    • 0029083650 scopus 로고
    • Prevalence of hypertrophic cardiomyopathy in a general population of young adults: Echocardiographic analysis of 4111 subjects in the CARDIa study
    • Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE (1995) Prevalence of hypertrophic cardiomyopathy in a general population of young adults: echocardiographic analysis of 4111 subjects in the CARDIA study. Circulation 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
  • 4
    • 0030057106 scopus 로고    scopus 로고
    • Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles
    • Maron B, Shirani J, Poliac L, Mthenge R, Roberts W, Mueller F (1996) Sudden death in young competitive athletes. Clinical, demographic, and pathological profiles. JAMA 276:199-204
    • (1996) JAMA , vol.276 , pp. 199-204
    • Maron, B.1    Shirani, J.2    Poliac, L.3    Mthenge, R.4    Roberts, W.5    Mueller, F.6
  • 5
    • 0029166817 scopus 로고
    • Recent advances in the molecular genetics of hypertrophic cardiomyopathy
    • Marian AJ, Roberts R (1995) Recent advances in the molecular genetics of hypertrophic cardiomyopathy. Circulation 92:1336-1347
    • (1995) Circulation , vol.92 , pp. 1336-1347
    • Marian, A.J.1    Roberts, R.2
  • 12
    • 0030046902 scopus 로고    scopus 로고
    • Contractile protein mutations and heart disease
    • Vikstrom KL, Leinwand LA (1996) Contractile protein mutations and heart disease. Curr Opin Cell Biol 8:97-105
    • (1996) Curr Opin Cell Biol , vol.8 , pp. 97-105
    • Vikstrom, K.L.1    Leinwand, L.A.2
  • 15
    • 0026742032 scopus 로고
    • Localization of the gene encoding for ventricular myosin regulatory light chain (Myl 2) to human chromosome 12q23q24.3
    • Macera M, Szabo P, Wadgaonkar R, Siddiqui M, Verma R (1992) Localization of the gene encoding for ventricular myosin regulatory light chain (Myl 2) to human chromosome 12q23q24.3. Genomics 13:765-772
    • (1992) Genomics , vol.13 , pp. 765-772
    • Macera, M.1    Szabo, P.2    Wadgaonkar, R.3    Siddiqui, M.4    Verma, R.5
  • 16
    • 0024561485 scopus 로고
    • Human ventricular/slow twitch myosin alkali light chain gene. Characterization, sequence, and chromosomal location
    • Fodor W, Darras B, Seharaseyon J, Falkenthal S, Francke U, Vanin E (1989) Human ventricular/slow twitch myosin alkali light chain gene. Characterization, sequence, and chromosomal location. J Biol Chem 264:2143-2149
    • (1989) J Biol Chem , vol.264 , pp. 2143-2149
    • Fodor, W.1    Darras, B.2    Seharaseyon, J.3    Falkenthal, S.4    Francke, U.5    Vanin, E.6
  • 21
  • 24
    • 0019442765 scopus 로고
    • Patterns and significance of distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy. A wide angle, two dimensional echocardiographic study of 125 patients
    • Maron BJ, Gottdiener JS, Epstein S (1981) Patterns and significance of distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy. A wide angle, two dimensional echocardiographic study of 125 patients. J Am Cardiol 48:418-428
    • (1981) J Am Cardiol , vol.48 , pp. 418-428
    • Maron, B.J.1    Gottdiener, J.S.2    Epstein, S.3
  • 27
    • 0022426735 scopus 로고
    • The myosin alkali light chain proteins and their genes
    • Barton B, Buckingham M (1985) The myosin alkali light chain proteins and their genes. Biochem J 231:249-261
    • (1985) Biochem J , vol.231 , pp. 249-261
    • Barton, B.1    Buckingham, M.2
  • 28
    • 0029896830 scopus 로고    scopus 로고
    • Molecular diversity of myofibrillar proteins: Gene regulation and functional significance
    • Schiaffino S, Reggiani C (1996) Molecular diversity of myofibrillar proteins: gene regulation and functional significance. Physiol Rev 76:371-423
    • (1996) Physiol Rev , vol.76 , pp. 371-423
    • Schiaffino, S.1    Reggiani, C.2
  • 29
    • 0028558668 scopus 로고
    • Role of myosin light chains
    • Trybus KM (1994) Role of myosin light chains. J M Res Cell Motil 15:587-594
    • (1994) J M Res Cell Motil , vol.15 , pp. 587-594
    • Trybus, K.M.1
  • 30
    • 0027300234 scopus 로고
    • Myosin light chains phosphorylation in striated muscle: Regulation and function
    • Sweeney H, Bowman B, Stull J (1993) Myosin light chains phosphorylation in striated muscle: regulation and function. Am J Physiol 264:C1085-C1095
    • (1993) Am J Physiol , vol.264
    • Sweeney, H.1    Bowman, B.2    Stull, J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.