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A Case of Centronuclear Myopathy

Journal of the Korean Pediatric Society 2002;45(9):1170-1174.
Published online September 15, 2002.
A Case of Centronuclear Myopathy
Yun Hee Kim1, Yun Hee Kim1, Young Se Kwon1, Young Se Kwon1, Dae Hyun Lim1, Dae Hyun Lim1, Yong Hun Jun1, Yong Hun Jun1, Soon Ki Kim1, Soon Ki Kim1, Young Jin Hong1, Young Jin Hong1, Byong Kwan Son1, Byong Kwan Son1, Hae Seung Han2, Hea Seung Han2
1Department of Pediatrics, College of Medicine, Inha University, Incheon, Korea
1Department of Pediatrics, College of Medicine, Inha University, Incheon, Korea
2Department of Pathology, College of Medicine, Inha University, Incheon, Korea
2Department of Pathology, College of Medicine, Inha University, Incheon, Korea
Centrinuclear형 선천성 근병증 1례
김윤희1, 김윤희1, 권영세1, 권영세1, 임대현1, 임대현1, 전용훈1, 전용훈1, 김순기1, 김순기1, 홍영진1, 홍영진1, 손병관1, 손병관1, 한혜승2, 한혜승2
1인하대학교 의과대학 소아과학교실
1인하대학교 의과대학 소아과학교실
2인하대학교 의과대학 해부병리학교실
2인하대학교 의과대학 해부병리학교실
Correspondence: 
Young Se Kwon, Email: ysped@inha.ac.kr
Young Se Kwon, Email: ysped@inha.ac.kr
Abstract
Centrinuclear myopathy, an uncommon condition, is one of the congenital myopathies. It is characterized by the presence of central nuclei of muscle cells which can be detected on electronmicroscopy. It is believed to arise as a result of maturational arrest with persistence of microtubes postnatally. We report a boy with generalized hypotonia and muscle weakness who was diagnosed as centrinuclear myopathy by muscle biopsy.
Key Words: Congenital myopathy, Centrinuclear


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