J Korean Child Neurol Soc.
2001 Oct;9(2):425-429.
Familial Myotubular Myopathy Occurred in a Sibling
- Affiliations
-
- 1Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea.
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.
