Filamin C missense variant associated with severe right atrial disease and skeletal myopathy.

Giulio ConteFlavia PiciacchiaArgelia Medeiros-DomingoSusanna GregoPaolo RipellinoAngelo Auricchio

Published in: Journal of cardiovascular electrophysiology (2021)

Filamin C missense variant c.925G>A p.(Glu309Lys) is associated with the severe right atrial disease. Considering cosegregation with the disease (PP1 supporting), this variant should be classified as likely pathogenic.

Keyphrases

atrial fibrillation
intellectual disability
early onset
left atrial
late onset
autism spectrum disorder
drug induced
muscular dystrophy