Familial Myotubular Myopathy Occurred in a Sibling.
- Author:
Hee HWANG
1
;
Hyeok Joo KWON
;
Jong Hee CHAI
;
Ki Joong KIM
;
Yong Seung HWANG
Author Information
1. Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Myotubular myopathy;
X-linked;
Centronuclear myopathy
- MeSH:
Atrophy;
Humans;
Inheritance Patterns;
Muscular Diseases;
Myopathies, Structural, Congenital*;
Pathology;
Siblings*
- From:
Journal of the Korean Child Neurology Society
2001;9(2):425-429
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Myotubular or centronuclear myopathy(MTM) is a rare congenital myopathy, which is characterized by predominance and atrophy of type 1 fibers and centrally located nuclei in muscle pathology. The clinical features and severity are quite variable. MTM is classified as three forms according to the inheritance pattern : autosomal dominant, autosomal recessive and X-linked recessive. The authors present familial myotubular myopathy, suggestive of X linked, occurred in a sibling with intrafamilial clinical variability.
