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A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.

A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.

A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.