A mutation update for the FLNC gene in myopathies and cardiomyopathies
Abstract
Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally, FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high-throughput screening in cardiomyopathy cohorts determined a prominent role for FLNC in isolated hypertrophic and dilated cardiomyopathies (HCM and DCM). FLNC variants are now among the more prevalent causes of genetic DCM. FLNC-associated DCM is associated with a malignant...
Paper Details
Title
A mutation update for the FLNC gene in myopathies and cardiomyopathies
Published Date
Mar 20, 2020
Journal
Volume
41
Issue
6
Pages
1091 - 1111
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