| Miyoshi Myopathy Confirmed by Molecular Genetics |
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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. |
| Key Words:
Miyoshi myopathy, Distal myopathy, Dysferlin |
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