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FLNC truncations cause arrhythmogenic right ventricular cardiomyopathy.

Francesca BrunMarta GigliSharon L GrawDaniel P JudgeMarco MerloBrittney MurrayHugh CalkinsGianfranco SinagraMatthew Rg TaylorLuisa MestroniCynthia A James
Published 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.
Keyphrases
  • bioinformatics analysis
  • heart failure
  • genome wide
  • gene expression
  • cord blood
  • atrial fibrillation