Phenotypic characterization of hypertrophic cardiomyopathy associated with K600fs mutation in cardiac myosin-binding protein C gene

被引:0
|
作者
Ortiz, M. F. [1 ]
Hermida-Prieto, M. [2 ]
Barriales-Villa, R. [3 ]
Fernandez, X. [4 ]
Rodriguez-Garcia, M. I. [2 ]
Cazon, L. [2 ]
Nunez, L. [2 ]
Veira, E. [3 ]
Castro-Beiras, A. [5 ]
Monserrat, L. [5 ]
机构
[1] Fdn Carolina BBVA, La Coruna, Spain
[2] Inst Univ Ciencias Salud, La Coruna, Spain
[3] Inst Invest Biomed A Coruna INIBIC, La Coruna, Spain
[4] Red Invest Cardiovasc RECAVA, La Coruna, Spain
[5] Complexo Hosp Univ A Coruna, La Coruna, Spain
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:543 / 544
页数:2
相关论文
共 50 条
  • [41] Dispersion in gene-affected members without hypertrophy in familiar hypertrophic cardiomyopathy caused by myosin-binding protein C gene mutation
    Kitaoka, H
    Kubo, T
    Okawa, M
    Yabe, T
    Furuno, T
    Doi, Y
    Kimura, A
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2001, 37 (02) : 208A - 209A
  • [42] Cardiac Myosin-Binding Protein C Mutations and Hypertrophic Cardiomyopathy Haploinsufficiency, Deranged Phosphorylation, and Cardiomyocyte Dysfunction
    van Dijk, Sabine J.
    Dooijes, Dennis
    dos Remedios, Cris
    Michels, Michelle
    Lamers, Jos M. J.
    Winegrad, Saul
    Schlossarek, Saskia
    Carrier, Lucie
    ten Cate, Folkert J.
    Stienen, Ger J. M.
    van der Velden, Jolanda
    CIRCULATION, 2009, 119 (11) : 1473 - 1483
  • [43] Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac myosin-binding protein c gene among Japanese
    Kubo, T
    Kitaoka, H
    Okawa, M
    Matsumura, Y
    Hitomi, N
    Yamasaki, N
    Furuno, T
    Takata, J
    Nishinaga, M
    Kimura, A
    Doi, YL
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2005, 46 (09) : 1737 - 1743
  • [44] Identification of a novel myosin binding protein C gene mutation causing hypertrophic cardiomyopathy
    Sepp, R
    Borthaiser, A
    Jebelovszki, É
    Dongó, A
    Rampazzo, A
    Pálinkás, A
    Forster, T
    Danieli, GA
    Csanády, M
    JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2002, 34 (06) : A57 - A57
  • [45] DIASTOLIC FUNCTION IN MYOSIN-BINDING PROTEIN C FOUNDER MUTATION CARRIERS WITH AND WITHOUT CLINICAL EVIDENCE OF HYPERTROPHIC CARDIOMYOPATHY
    Adalsteinsdottir, Berglind
    Ho, Carolyn
    Burke, Michael
    Danielsen, Ragnar
    Maron, Barry
    Seidman, Jonathan
    Seidman, Christine
    Gunnarsson, Gunnar
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2019, 73 (09) : 931 - 931
  • [46] Echocardiographic characterization of hypertrophic cardiomyopathy in Chinese patients with myosin-binding protein C3 mutations
    Zhao, Bei
    Wang, Shouli
    Chen, Jinsong
    Ji, Yali
    Wang, Jing
    Tian, Xiaoli
    Zhi, Guang
    EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2017, 13 (03) : 995 - 1002
  • [47] Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect
    García-Castro, M
    Reguero, JR
    Alvarez, V
    Batalla, A
    Soto, MI
    Albaladejo, V
    Coto, E
    INTERNATIONAL JOURNAL OF CARDIOLOGY, 2005, 102 (03) : 501 - 507
  • [48] Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy
    De, Sabe
    Borowski, Allen G.
    Wang, Heng
    Nye, Leah
    Xin, Baozhong
    Thomas, James D.
    Tang, W. H. Wilson
    AMERICAN HEART JOURNAL, 2011, 162 (02) : 262 - U82
  • [49] Navel mutations in the cardiac myosin binding protein C gene in patients with hypertrophic cardiomyopathy
    Perrot, A
    Hasbach, M
    Szangolies, I
    Reinke, M
    Poepping, I
    Ellmer, AE
    Schutte, HD
    Osterziel, KJ
    CIRCULATION, 1999, 100 (18) : 618 - 618
  • [50] Novel mutations in the cardiac myosin binding protein C gene in patients with hypertrophic cardiomyopathy
    Dyachenko, S
    Erdmann, J
    Regitz-Zagrosek, V
    CIRCULATION, 1999, 100 (18) : 817 - 817