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
来源：
HEART DISEASE: PATHOPHYSIOLOGY, EVALUATION AND MANAGEMENT | 2012年
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
  • [11] Homology-directed repair of an MYBPC3 gene mutation in a rat model of hypertrophic cardiomyopathy
    Nie, Jiali
    Han, Yu
    Jin, Zhiyuan
    Hang, Weijian
    Shu, Hongyang
    Wen, Zheng
    Ni, Li
    Wang, Dao Wen
    GENE THERAPY, 2023, 30 (06) : 520 - 527
  • [12] Haploinsufficiency of MYBPC3 in the Development of Hypertrophic Cardiomyopathy
    Barefield, David
    Kumar, Mohit
    Gorham, Joshua
    Seidman, Jonathan
    Seidman, Christine
    de Tombe, Pieter
    Sadayappan, Sakthivel
    CIRCULATION, 2014, 130
  • [13] A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy
    Vitale, Giovanni
    Pasquale, Ferdinando
    Leone, Ornella
    Cenacchi, Giovanna
    Niro, Fabio
    Torrado, Mario
    Maneiro, Emilia
    Graziosi, Maddalena
    Ditaranto, Raffaello
    Capelli, Irene
    Monserrat, Lorenzo
    Rapezzi, Claudio
    Biagini, Elena
    CANADIAN JOURNAL OF CARDIOLOGY, 2020, 36 (09) : 1554.e1 - 1554.e3
  • [14] Familial Hypertrophic Cardiomyopathy in the Presence of a MYBPC3 Pathogenic Variant Reveals a Possible Modifier Role for a MYBPC3 Variant of Uncertain Clinical Significance
    Spoonamore, K. G.
    Freeze, S.
    Lynnes, C.
    Chakraborty, S.
    Celestino-Soper, P. B.
    Bai, S.
    Ware, S. M.
    Chen, P.
    Parent, J. J.
    Vatta, M.
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2016, 18 (06): : 945 - 945
  • [15] Prevalence of MYBPC3 Gene Mutations in Russian Patients with Hypertrophic Cardiomyopathy
    Klass, A. L.
    Krylova, N. S.
    Lysenko, A. V.
    Vlasov, I. N.
    Maslova, M. Yu.
    Salagaev, G. I.
    Kovalevskaya, E. A.
    Poteshkina, N. G.
    Shadrina, M. I.
    Slominsky, P. A.
    Filatova, E. V.
    MOLECULAR GENETICS MICROBIOLOGY AND VIROLOGY, 2023, 38 (01) : 16 - 20
  • [16] Prevalence of MYBPC3 Gene Mutations in Russian Patients with Hypertrophic Cardiomyopathy
    A. L. Klass
    N. S. Krylova
    A. V. Lysenko
    I. N. Vlasov
    M. Yu. Maslova
    G. I. Salagaev
    E. A. Kovalevskaya
    N. G. Poteshkina
    M. I. Shadrina
    P. A. Slominsky
    E. V. Filatova
    Molecular Genetics, Microbiology and Virology, 2023, 38 : 16 - 20
  • [17] Nationwide Study on Hypertrophic Cardiomyopathy in Iceland Evidence of a MYBPC3 Founder Mutation
    Adalsteinsdottir, Berglind
    Teekakirikul, Polakit
    Maron, Barry J.
    Burke, Michael A.
    Gudbjartsson, Daniel F.
    Holm, Hilma
    Stefansson, Kari
    DePalma, Steven R.
    Mazaika, Erica
    McDonough, Barbara
    Danielsen, Ragnar
    Seidman, Jonathan G.
    Seidman, Christine E.
    Gunnarsson, Gunnar T.
    CIRCULATION, 2014, 130 (14) : 1158 - 1167
  • [18] From genotype to phenotype: a longitudinal study of a patient with hypertrophic cardiomyopathy due to a mutation in the MYBPC3 gene
    Jacques, Adam
    Hoskins, Anita C.
    Kentish, Jonathan C.
    Marston, Steven B.
    JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY, 2008, 29 (6-8) : 239 - 246
  • [19] High-degree atrioventricular block revealing hypertrophic cardiomyopathy related to a mutation in MYBPC3 gene
    Kouakam, Claude
    Boule, Stephane
    Brigadeau, Francois
    PRESSE MEDICALE, 2019, 48 (01): : 68 - 71
  • [20] From genotype to phenotype: a longitudinal study of a patient with hypertrophic cardiomyopathy due to a mutation in the MYBPC3 gene
    Adam Jacques
    Anita C. Hoskins
    Jonathan C. Kentish
    Steven B. Marston
    Journal of Muscle Research and Cell Motility, 2008, 29 : 239 - 246
12345