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KMID : 0860920050070020148
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Journal of the Korean Association EMG-Electrodiagnostic Medicine
2005 Volume.7 No. 2 p.148 ~ p.152
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Miyoshi Myopathy Confirmed by Molecular Genetics
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Oh Min-Kyun
Jo Jin-Hong
Lee Chag-Han
Lee Eun-Shin
Shin Hee-Suk
Yoon Chul-Ho
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Abstract
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Most muscle disorders produce proximal weakness. Some myopathies manifest predominantly or exclusively distal weakness. Type Ⅱ early adult onset distal myopathy or Miyoshi myopathy is rare myopathy inherited autosomal recessive pattern, characterized by weakness and atrophy that begins in the posterior compartment muscles of the legs.
The onset of symptoms is in between 15 and 30 years of age. It is associated with markedly elevated creatine
kinase levels and has dystrophic changes on muscle histopathology. The gene has been recently mapped to chromosome 2p13, which codes for the dysferlin protein. Up to date, less than 45 dysferlin (DYSF) mutations have been described. We report a case of Miyoshi myopathy confirming a mutation in the dysferlin gene.
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KEYWORD
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Miyoshi Myopathy, Distal myopathy, Dysferlin
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