MYH7-Mutation Associated Allelic Imbalance in Familial Hypertrophic Cardiomyopathy: Molecular Mechanisms and Correlation with Disease Prognosis
نویسندگان
چکیده
منابع مشابه
Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.
AIMS Familial hypertrophic cardiomyopathy (HCM), frequently caused by sarcomeric gene mutations, is characterized by cellular dysfunction and asymmetric left-ventricular (LV) hypertrophy. We studied whether cellular dysfunction is due to an intrinsic sarcomere defect or cardiomyocyte remodelling. METHODS AND RESULTS Cardiac samples from 43 sarcomere mutation-positive patients (HCMmut: mutatio...
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ژورنال
عنوان ژورنال: Biophysical Journal
سال: 2012
ISSN: 0006-3495
DOI: 10.1016/j.bpj.2011.11.3344