Muscular dystrophy with arrhythmia caused by loss-of-function mutations in <i>BVES</i>

Abstract

We report the identification of homozygous LOF mutations in <i>BVES</i>, causal in a young adult-onset myopathy with concomitant cardiac conduction disorders in the absence of structural heart disease. These findings underline the role of POPDC1, and by extension, other members of this protein family, in striated muscle physiology and disease. This disorder appears to have a low prevalence, although it is probably underdiagnosed because of its striking phenotypic variability and often subtle yet clinically relevant manifestations, particularly concerning the cardiac conduction abnormalities.