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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.

0 trials tagged with this condition →

Autosomal recessive limb-girdle muscular dystrophy type 2Q 1 trial
Epidermolysis bullosa simplex 5B, with muscular dystrophy 0 trials
Epidermolysis bullosa simplex 5C, with pyloric atresia 0 trials
Epidermolysis bullosa simplex with nail dystrophy 0 trials