| Familial Myotubular Myopathy Occurred in a Sibling. |
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Hee Hwang, Hyeok Joo Kwon, Jong Hee Chai, Ki Joong Kim, Yong Seung Hwang |
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Department of Pediatrics, College of Medicine, Seoul National University, Seoul, Korea. |
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| Abstract |
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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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