A Case of Centronuclear Myopathy.
- Author:
Hyun Kyung KIM
1
;
Wi Sun RYU
;
Yoon Ho HONG
;
Jung Joon SUNG
;
Kyung Seok PARK
;
Seong Ho PARK
;
Kwang Woo LEE
Author Information
1. Department of Neurology, Seoul National University College of Medicine, Seoul, Korea. pks1126@chol.com
- Publication Type:Case Report
- Keywords:
Centronuclear myopathy;
Congenital myopathy;
Dysmorphic features
- MeSH:
Humans;
Inheritance Patterns;
Muscle Weakness;
Muscular Diseases;
Myopathies, Structural, Congenital*;
Pathology
- From:Journal of the Korean Neurological Association
2006;24(5):491-494
- CountryRepublic of Korea
- Language:Korean
-
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.
