J. Lee, H. Shin, Y. Choi September 14, 2017

Mutations in plectin were identified as a cause of muscular dystrophy, myasthenic syndrome, and epidermolysis bullosa simplex. We report a case of epidermolysis bullosa simplex and muscular dystrophy with myasthenic symptoms caused by two novel PLEC mutations. A 17-year-old male visited to our hospital due to extraocular muscle (EOM) weakness, bilateral ptosis, chronic fatigue, and upper arm weakness since 7 years old. He didn’t have any medical or surgical illness and there are no patients with neuromuscular disease in his family.


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