A Case of Compound Mutations in the <b><i>MYBPC3</i></b> Gene Associated with Biventricular Hypertrophy and Neonatal Death
Abstract
Hypertrophic cardiomyopathy (HCM) is a familial, genetically determined, primary cardiomyopathy caused by mutations in genes coding for proteins of the sarcomere, or, less frequently, genes involved in storage diseases. In pediatric settings, pure HCM has an estimated incidence of 4.7 per million children. The disease is often sub-clinical and goes unrecognized mainly because most patients with HCM have only mild symptoms, if any. However,...
Paper Details
Title
A Case of Compound Mutations in the <b><i>MYBPC3</i></b> Gene Associated with Biventricular Hypertrophy and Neonatal Death
Published Date
Jan 1, 2012
Journal
Volume
102
Issue
4
Pages
254 - 258
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