Article
FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy.
Journal of medical genetics - 1 Apr 2020
Brun Francesca, Gigli Marta, Graw Sharon L, Judge Daniel P, Merlo Marco, Murray Brittney, Calkins Hugh, Sinagra Gianfranco, Taylor Matthew Rg, Mestroni Luisa, James Cynthia A
Abstract excerpt
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that affects predominantly the right ventricle and is part of the spectrum of arrythmogenic cardiomyopathies (ACMs). ARVC is a genetic condition; however, a pathogenic gene variant is found in only half of patients. OBJECTIVE: Filamin C gene truncations (FLNCtv) have recently been identified in dilated cardiomyopathy with...
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