A NEW MISSENSE MUTATION, ARG719GLN, IN THE BETA-CARDIAC HEAVY-CHAIN MYOSIN GENE OF PATIENTS WITH FAMILIAL HYPERTROPHIC CARDIOMYOPATHY

被引:49
|
作者
CONSEVAGE, MW
SALADA, GC
BAYLEN, BG
LADDA, RL
ROGAN, PK
机构
关键词
D O I
10.1093/hmg/3.6.1025
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:1025 / 1026
页数:2
相关论文
共 50 条
  • [41] Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy
    Kuang, SQ
    Yu, JD
    Lu, L
    He, LM
    Gong, LS
    Chen, SJ
    Chen, Z
    JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 1996, 28 (09) : 1879 - 1883
  • [42] A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family
    Bashyam, Murali D.
    Savithri, Gorinabele R.
    Gopikrishna, Munimanda
    Narasimhan, Calarribur
    CANADIAN JOURNAL OF CARDIOLOGY, 2007, 23 (10) : 788 - 790
  • [43] EXPRESSION OF A MISSENSE MUTATION IN THE MESSENGER-RNA FOR BETA-MYOSIN HEAVY-CHAIN IN MYOCARDIAL TISSUE IN HYPERTROPHIC CARDIOMYOPATHY
    PERRYMAN, MB
    YU, QT
    MARIAN, AJ
    MARES, A
    CZERNUSZEWICZ, G
    IFEGWU, J
    HILL, R
    ROBERTS, R
    JOURNAL OF CLINICAL INVESTIGATION, 1992, 90 (01): : 271 - 277
  • [44] FAMILIAL DILATED CARDIOMYOPATHY IS NOT LINKED TO THE BETA-MYOSIN HEAVY-CHAIN GENE
    SCHEFFOLD, T
    GRUNIG, E
    HOLLMANN, G
    REMPPIS, A
    FRANZ, W
    KUHN, E
    VOSBERG, HP
    KATUS, HA
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 1994, : A429 - A429
  • [45] Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain
    Bundgaard, H
    Havndrup, O
    Andersen, PS
    Larsen, LA
    Brandt, NJ
    Vuust, J
    Kjeldsen, K
    Christiansen, M
    JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 1999, 31 (04) : 745 - 750
  • [46] IDENTIFICATION OF ALPHA-CARDIAC AND BETA-CARDIAC MYOSIN HEAVY-CHAIN ISOFORMS AS MAJOR AUTOANTIGENS IN DILATED CARDIOMYOPATHY
    CAFORIO, ALP
    GRAZZINI, M
    MANN, JM
    KEELING, PJ
    BOTTAZZO, GF
    MCKENNA, WJ
    SCHIAFFINO, S
    CIRCULATION, 1992, 85 (05) : 1734 - 1742
  • [47] PROGNOSTIC IMPLICATIONS OF 3 NOVEL MISSENSE MUTATIONS IN THE BETA-MYOSIN HEAVY-CHAIN GENE IN FAMILIES WITH HYPERTROPHIC CARDIOMYOPATHY
    GREVE, G
    ANAN, R
    WATKINS, H
    THIERFELDER, L
    SHONO, H
    SPIROTO, P
    MARES, A
    ROBERTS, R
    SEIDMAN, CE
    CIRCULATION, 1993, 88 (04) : 573 - 573
  • [48] QT dispersion in α-myosin heavy-chain familial hypertrophic cardiomyopathy mice
    Bevilacqua, LM
    Maguire, CT
    Seidman, JG
    Seidman, CE
    Berul, CI
    PEDIATRIC RESEARCH, 1999, 45 (05) : 643 - 647
  • [49] QT Dispersion in α-Myosin Heavy-Chain Familial Hypertrophic Cardiomyopathy Mice
    Laura M Bevilacqua
    Colin T Maguire
    Jonathan G Seidman
    Christine E Seidman
    Charles I Berul
    Pediatric Research, 1999, 45 : 643 - 647
  • [50] DIFFERENCES IN CLINICAL EXPRESSION OF HYPERTROPHIC CARDIOMYOPATHY ASSOCIATED WITH 2 DISTINCT MUTATIONS IN THE BETA-MYOSIN HEAVY-CHAIN GENE - A 908LEU-]VAL MUTATION AND A 403ARG-]GLN MUTATION
    EPSTEIN, ND
    COHN, GM
    CYRAN, F
    FANANAPAZIR, L
    CIRCULATION, 1992, 86 (02) : 345 - 352