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Journal of the Korean Child Neurology Society 2001;9(2):425-429.
Published online October 30, 2001.
Familial Myotubular Myopathy Occurred in a Sibling.
Hee Hwang, Hyeok Joo Kwon, Jong Hee Chai, Ki Joong Kim, Yong Seung Hwang
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.
Key Words: Myotubular myopathy, X-linked, Centronuclear myopathy
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