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

ConclusionFilamin C missense variant (c.925G>A p.(Glu309Lys) is associated with severe right atrial disease. Considering co-segregation with the disease (PP1 Supporting), this variant should be classified as likely pathogenic.This article is protected by copyright. All rights reserved.

https://onlinelibrary.wiley.com/doi/10.1111/jce.15218?af=R

Source: Journal of Cardiovascular Electrophysiology - August 19, 2021 Category: Cardiology Authors: Giulio Conte, Flavia Piciacchia, Argelia Medeiros Domingo, Susanna Grego, Paolo Ripellino, Angelo Auricchio Tags: BRIEF COMMUNICATION Source Type: research