분자유전학 검사로 확진된 Miyoshi 근육병증
Miyoshi Myopathy Confirmed by Molecular Genetics
오민균, 조진홍, 이창한, 이은신, 신희석, 윤철호,
소속 상세정보
오민균 ( Oh Min-Kyun )
경상대학교 의과대학 재활의학교실
조진홍 ( Jo Jin-Hong )
경상대학교 의과대학 재활의학교실
이창한 ( Lee Chag-Han )
경상대학교 의과대학 재활의학교실
이은신 ( Lee Eun-Shin )
경상대학교 의과대학 재활의학교실
신희석 ( Shin Hee-Suk )
경상대학교 의과대학 재활의학교실
윤철호 ( Yoon Chul-Ho )
경상대학교 의과대학 재활의학교실
KMID : 0860920050070020148
Abstract
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.
키워드
Miyoshi Myopathy;Distal myopathy;Dysferlin
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