Annals of Clinical Neurophysiology

  • 제10권1호
  • /
  • Pages.66-69
  • /
  • 2008
  • /
  • 2508-691X(pISSN)
  • /
  • 2508-6960(eISSN)
대한임상신경생리학회 (The Korean Society of Clinical Neurophysiology)
권호 표지

유전자분석으로 진단한 얼굴어깨위팔근육디스트로피 1예

A Case of Facioscapulohumeral Muscular Dystrophy Confirmed by Genetic Analysis

  • 이석호 (한양대학교 의과대학 신경과학교실) ;
  • 기창석 (성균관의대 삼성서울병원 진단검사의학과) ;
  • 이승철 (한양대학교 의과대학 신경과학교실) ;
  • 박진석 (한양대학교 의과대학 신경과학교실) ;
  • 고성호 (한양대학교 의과대학 신경과학교실) ;
  • 이규용 (한양대학교 의과대학 신경과학교실)
  • Lee, Seok-Ho (Department of Neurology, College of Medicine, Hanyang University) ;
  • Ki, Chang-Seok (Department of Laboratory Medicine, Sungkyunkwan University School of Medicine, Samsung Medical Center) ;
  • Lee, Seung-Chul (Department of Neurology, College of Medicine, Hanyang University) ;
  • Park, Jin-Seok (Department of Neurology, College of Medicine, Hanyang University) ;
  • Koh, Seong-Ho (Department of Neurology, College of Medicine, Hanyang University) ;
  • Lee, Kyu-Yong (Department of Neurology, College of Medicine, Hanyang University)
  • 투고 : 2008.04.06
  • 심사 : 2008.06.04
  • 발행 : 2008.06.30
PDF 다운로드
⟨ 이전 논문 다음 논문 ⟩

초록

Facioscapulohumeral muscular dystrophy (FSHD), the third most common inherited muscular dystrophy, is an autosomal dominant disease characterized by progressive weakness and wasting of the facial, shoulder-girdle, upper arm, foot extensor, and pelvic girdle muscles. FSHD is caused by contraction of the polymorphic D4Z4 repeat in the subtelomere of chromosome 4q. However, there has been no report of genetically confirmed FSHD in Korea. We report a patient with FSHD who was found to have a deletion of D4Z4 repeat on chromosome 4q35.

키워드