J Korean Pediatr Soc.
2002 Sep;45(9):1170-1174.
A Case of Centronuclear Myopathy
- Affiliations
-
- 1Department of Pediatrics, College of Medicine, Inha University, Incheon, Korea. ysped@inha.ac.kr
- 2Department of Pathology, College of Medicine, Inha University, Incheon, Korea.
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.
