J Korean Neurol Assoc.
2006 Oct;24(5):491-494.
A Case of Centronuclear Myopathy
- Affiliations
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- 1Department of Neurology, Seoul National University College of Medicine, Seoul, Korea. pks1126@chol.com
Abstract
- Centronuclear myopathy is a rare congenital myopathy, which is characterized by centrally located nuclei and hypotrophy or predominance of type 1 fibers in muscle pathology. It is classified into three forms according to the clinical features and inheritance pattern: the X-linked recessive, the autosomal recessive, and the autosomal dominant forms. We report a case of a patient with generalized muscle weakness, poor muscle bulk, and dysmorphic features who was diagnosed as centronuclear myopathy.
