Loss-of-function mutations in BVES in muscular dystrophy with arrhythmia

Takeaway

  • This disorder appears to have a low prevalence, although is probably underdiagnosed, due to its phenotypic variability and subtle yet clinically relevant manifestations, particularly concerning cardiac conduction abnormalities.

Why this matters

  • These findings highlight the importance of thorough cardiac workup in unsolved patients with limb-girdle muscular dystrophy.