A Case of Centronuclear Myopathy.
- Author:
Yun Hee KIM
1
;
Young Se KWON
;
Dae Hyun LIM
;
Yong Hun JUN
;
Soon Ki KIM
;
Young Jin HONG
;
Byong Kwan SON
;
Hae Seung HAN
Author Information
1. Department of Pediatrics, College of Medicine, Inha University, Incheon, Korea. ysped@inha.ac.kr
- Publication Type:Case Report
- Keywords:
Congenital myopathy;
Centrinuclear
- MeSH:
Biopsy;
Humans;
Male;
Muscle Cells;
Muscle Hypotonia;
Muscle Weakness;
Muscular Diseases;
Myopathies, Structural, Congenital*
- From:Journal of the Korean Pediatric Society
2002;45(9):1170-1174
- CountryRepublic of Korea
- Language:Korean
-
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.