Mutations inFLNCare Associated with Familial Restrictive Cardiomyopathy
Abstract
Individuals affected by restrictive cardiomyopathy (RCM) often develop heart failure at young ages resulting in early heart transplantation. Familial forms are mainly caused by mutations in sarcomere proteins and demonstrate a common genetic etiology with other inherited cardiomyopathies. Using next-generation sequencing, we identified two novel missense variants (p.S1624L; p.I2160F) in filamin-C (FLNC), an actin-cross-linking protein mainly...
Paper Details
Title
Mutations inFLNCare Associated with Familial Restrictive Cardiomyopathy
Published Date
Jan 8, 2016
Journal
Volume
37
Issue
3
Pages
269 - 279
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