PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder
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.
MONDO:0003847
hereditary disease
is_a
PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder
exact
qualitative or quantitative defects of plectin
narrow