J Med Life Sci > Volume 6(3); 2009 > Article
Journal of Medicine and Life Science 2009;6(3):184-186.
DOI: https://doi.org/10.22730/jmls.2009.6.3.184    Published online May 24, 2009.
염색체 4번 D4Z4 결손이 확인된 얼굴어깨위팔근육 디스트로피 가족 1예
이 재 영, 김 지 영, 깅 중 구, 강 지 훈, 최 재 철, 이 정 석, 강 사 윤
제주대학교 의학전문대학원 신경과학교실
A family of facioscapulohumeral muscular dystrophy confirmed by D4Z4 deletion on chromosome 4q35
Jae Young Lee, Jee Young Kim, Joong-Goo Kim, Ji-Hoon Kang, Jay Chol Choi, Jung Seok Lee, Sa- Yoon Kang
Department of Neurosurery, Jeju National University School of Medicine, Jeju, Korea
Correspondence:  Sa- Yoon Kang, Email: neurokang@jejunu.ac.kr
Abstract
Facioscapulohumeral muscular dystrophy (FSHD). is an autosomal dominant form of muscular dystrophy characterized by progressive weakness and wasting of the facial. shoulder-girdle and upper arm muscles. Recently, FSHD is diagnosed by a molecular genetic test showing a deletion of integral copies to a 3.3 kb DNA repeat motif named D4Z4. We report a family showing clinical and genetic findings consistent with the FSHD.
Key Words: Autosomal dominant; D4Z4; Facioscapulohumeral muscular dystrophy
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