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
收藏
页码:9 / 12
页数:4
相关论文
共 50 条
  • [21] Developing an AAV-Based Gene Therapy for MYBPC3 Mutation-Associated Hypertrophic Cardiomyopathy
    Salameh, Therese
    Xu, Hongbin
    Duan, Hong
    Sharma, Yogeshwar
    Yedlapudi, Deepthi
    Ren, Chao
    Cao, Jingsong
    Shi, Zhong-Dong
    MOLECULAR THERAPY, 2024, 32 (04) : 312 - 312
  • [22] 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
  • [23] 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
  • [24] MYBPC3 Mutations in Indian Patients With Hypertrophic Cardiomyopathy
    Wankhade, Varsha W.
    CIRCULATION RESEARCH, 2019, 125
  • [25] Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin
    Toepfer, Christopher N.
    Wakimoto, Hiroko
    Garfinkel, Amanda C.
    McDonough, Barbara
    Liao, Dan
    Jiang, Jianming
    Tai, Angela C.
    Gorham, Joshua M.
    Lunde, Ida G.
    Lun, Mingyue
    Lynch, Thomas L.
    McNamar, James W.
    Sadayappa, Sakthivel
    Redwood, Charles S.
    Watkins, Hugh C.
    Seidma, Jonathan G.
    Seidman, Christine E.
    SCIENCE TRANSLATIONAL MEDICINE, 2019, 11 (476)
  • [26] Description of a Cohort with a New Truncating MYBPC3 Variant for Hypertrophic Cardiomyopathy in Northern Spain
    Suarez, Natalia Fernandez
    Ubierna, Maria Teresa Viadero
    Basas, Jesus Garde
    de la Fuente, Maria Esther Onecha
    Lanza, Maria Teresa Amigo
    Gorria, Gonzalo Martin
    Perez, Adrian Rivas
    Guerrero, Luis Ruiz
    Gonzalez-Lamuno, Domingo
    GENES, 2023, 14 (04)
  • [27] MYBPC3 genotypes associated with familial hypertrophic cardiomyopathy
    Garcia, A.
    Gregorio, C.
    Martins, M.
    Oliveira, C.
    Moldovan, O.
    Madeira, H.
    Pinto, F.
    Brito, D.
    EUROPEAN JOURNAL OF HEART FAILURE, 2024, 26 : 41 - 42
  • [28] Identification of founder MYBPC3 gene mutations in hungarian patients with hypertrophic cardiomyopathy
    Tringer, A.
    Hategan, L.
    Csanyi, B.
    Borbas, J.
    Palinkas, E.
    Nagy, V.
    Hegedus, Z.
    Nagy, I.
    Forster, T.
    Sepp, R.
    EUROPEAN JOURNAL OF HEART FAILURE, 2019, 21 : 55 - 55
  • [29] MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction
    Verena Behrens-Gawlik
    Giulia Mearini
    Christina Gedicke-Hornung
    Pascale Richard
    Lucie Carrier
    Pflügers Archiv - European Journal of Physiology, 2014, 466 : 215 - 223
  • [30] Fatal neonatal hypertrophic cardiomyopathy caused by compound heterozygous truncating MYBPC3 mutation
    S. Alsters
    L. Wong
    L. Peferoen
    H. W. M. Niessen
    H. Bikker
    M. W. Elting
    A. C. Houweling
    Netherlands Heart Journal, 2019, 27 : 282 - 283