Miyoshi형 원위부 근육병증 1례

Abstract

We report a 25-year-old man who manifested typical symptoms of Miyoshi myopathy with brief review of literatures. Miyoshi myopathy is a rare distal myopathy which develops between 15 and 30 years of age and starts from the distal muscles, especially posterior compartment of the legs. Creatine kinase (CK) level is characteristically elevated to 10~100 fold above normal range. Electromyographic findings are compatible with myopathy and muscle biopsy shows myopathic changes with non-rimmed vacuoles and absence of dysferlin protein on immunostaining.