Journal Browser Advanced Search Help
Journal Browser Advanced search HELP
J Korean Child Neurol Soc. 2001 Oct;9(2):425-429. Korean. Case Report.
Hwang H , Kwon HJ , Chai JH , Kim KJ , Hwang YS .
Department 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.

Copyright © 2019. Korean Association of Medical Journal Editors.