Miyoshi myopathy is a rare distal myopathy of early adult onset and autosomal recessive inheritance. Weakness usually appears between 15 and 30 years of age starting from the posterior compartment of the legs. Serum creatine kinase (CK) level is characteristically elevated to 10- to 100-fold above the normal range. Muscle biopsy shows myopathic changes without vacuoles consistent with muscular dystrophy. It has not been reported in Korea as yet, so far as we know. We report a 23-year-old female who had the typical manifestations of Miyoshi myopathy with the brief review of literatures.
