Open AccessFamilial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3
Author(s) -
Aurensanz Clemente Esther,
Ayerza Casas Ariadna,
García Lasheras Cecilia,
Ramos Fuentes Feliciano,
Bueno Martínez Ines,
Pelegrín Díaz Juana,
Ruiz Frontera Pablo,
Montserrat Iglesias Lorenzo
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.832
Subject(s) - hypertrophic cardiomyopathy , medicine , mutation , cardiomyopathy , gene mutation , gene , genetics , bioinformatics , cardiology , heart failure , biology
Key Clinical Message We think that the main interests of this study are the report of a new mutation in gene MYBPC3 as a cause of Hypertrophic cardiomyopathy (HMC), and the verification of the fact that not always is the number of mutations related to the severity of the disease.