Login / Signup

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