EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency
Pathogenic variants in the EMD gene cause X-linked Emery–Dreifuss muscular dystrophy type 1 (EDMD1), typically presenting with joint contr…
Category: Disease genetics
Four cardiomyopathy patients with a heterozygous DSG2 p.Arg119Ter variant
DSG2, encoding desmoglein-2, is one of the causative genes of arrhythmogenic cardiomyopathy. We previously identified a homozygous DSG2