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KMID : 0860920050070020153
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Journal of the Korean Association EMG-Electrodiagnostic Medicine
2005 Volume.7 No. 2 p.153 ~ p.157
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Miyoshi Myopathy: A Case Report
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Lew Il-Sun
Park Eun-Ha
Khang Shin-Kwang
Pyun Sung-Bom
Choi Young-Chul
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Abstract
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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.
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KEYWORD
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Miyoshi Myopathy, Dysferlin, Dysferlinopathy, Distal myopathy
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