Apical Hypertrophic Cardiomyopathy with a rare MYBPC3 gene mutation variant

被引:0
|
作者
Ahmad, T. A. [1 ]
Bhattacharya, P. [1 ]
Al-bataineh, M. [1 ]
机构
[1] Drexel Univ, Coll Med, Mercy Fitzgerald Hosp, FACC,Dept Med, Philadelphia, PA 19023 USA
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
下载
收藏
页码:9 / 12
页数:4
相关论文
共 50 条
  • [31] MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction
    Behrens-Gawlik, Verena
    Mearini, Giulia
    Gedicke-Hornung, Christina
    Richard, Pascale
    Carrier, Lucie
    PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY, 2014, 466 (02): : 215 - 223
  • [32] A frame shift mutation(1208fs) in the MYBPC3 gene associated with hypertrophic cardiomyopathy in a Chinese family
    Liu, Liwen
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2015, 66 (16) : C220 - C220
  • [33] Dutch founder mutation in the gene for MYBPC3 is associated with a severe disease expression in Danish patients with hypertrophic cardiomyopathy
    Iraqi, N.
    Paasche, J. S.
    Kaldheim, M.
    Jensen, M.
    Rasmussen, T. B.
    Moelgaard, H.
    Henriksen, F. L.
    Mogensen, J.
    EUROPEAN HEART JOURNAL, 2017, 38 : 944 - 944
  • [34] A pathogenic nonsense mutation (c.1522C>T) of the MYBPC3 gene is implicated with hypertrophic cardiomyopathy
    Ni, Erru
    Wang, Tao
    Zhang, Xuan
    Xie, Huabin
    ESC HEART FAILURE, 2023, 10 (04): : 2711 - 2717
  • [35] How do MYBPC3 mutations cause hypertrophic cardiomyopathy?
    Steven Marston
    O’Neal Copeland
    Katja Gehmlich
    Saskia Schlossarek
    Lucie Carrrier
    Journal of Muscle Research and Cell Motility, 2012, 33 : 75 - 80
  • [36] Two novel mutations of the MYBPC3 gene identified in Chinese families with hypertrophic cardiomyopathy
    Lin, Jia
    Zheng, Dong-Dong
    Tao, Qin
    Yang, Jun-Hua
    Jiang, Wen-Ping
    Yang, Xiang-Jun
    Song, Jian-Ping
    Jiang, Ting-Bo
    Li, Xun
    CANADIAN JOURNAL OF CARDIOLOGY, 2010, 26 (10) : 518 - 522
  • [37] How do MYBPC3 mutations cause hypertrophic cardiomyopathy?
    Marston, Steven
    Copeland, O'Neal
    Gehmlich, Katja
    Schlossarek, Saskia
    Carrrier, Lucie
    JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY, 2012, 33 (01) : 75 - 80
  • [38] Sensitivity and Specificity of Denaturing HPLC to Detect MYBPC3 Gene Mutations in Hypertrophic Cardiomyopathy
    Bahrudin, Udin
    Mizuta, Einosuke
    Ariani, Mahayu Dewi
    Nindita, Yora
    Hisatome, Ichiro
    YONAGO ACTA MEDICA, 2009, 52 (04) : 121 - 125
  • [39] Evaluation of safety and feasibility of Mybpc3 gene therapy in a mouse model of hypertrophic cardiomyopathy
    Mearini, G.
    Simpel, D.
    Geertz, B.
    Kraemer, L.
    Schlossarek, S.
    Weinberger, F.
    Mueller, O.
    Voit, T.
    Eschenhagen, T.
    Carrier, L.
    CARDIOVASCULAR RESEARCH, 2014, 103
  • [40] In vivo Pathophysiology of Hypertrophic Cardiomyopathy in a Highly Prevalent 25 bp Deletion Mutation in MYBPC3
    Kuster, Diederik D.
    Barefield, David
    Govindan, Suresh
    Mayandi, Sivaguru
    Lee, Kyounghwan
    Craig, Roger
    Sadayappan, Sakthivel
    CIRCULATION, 2014, 130