PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder

Definition

A spectrum of disease associated with loss or disrupted function of the PLEC gene. These disorders primarily affect the skin and muscles, leading to a range of symptoms including skin blistering (EBS), progressive muscle weakness (muscular dystrophy), and other complications.

Also known as PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder — per MONDO