FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy.
Francesca BrunMarta GigliSharon L GrawDaniel P JudgeMarco MerloBrittney MurrayHugh CalkinsGianfranco SinagraMatthew Rg TaylorLuisa MestroniCynthia A JamesPublished in: Journal of medical genetics (2020)
The identification of FLNCtv as a novel cause of ARVC in two unrelated families expands the spectrum of ARVC non-desmosome disease genes for this disorder. Our findings should prompt inclusion of FLNC genetic testing in ARVC to improve diagnostic yield and testing of at-risk relatives in ARVC.