- X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation
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Jeon JH, Namgung R, Park MS, Park KI, Lee C, Lee JS, Kim SH
- KMID: 1777032
- Yonsei Med J.
- 2011 May;52(3):547-550.
- doi: 10.3349/ymj.2011.52.3.547
X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male infants present severe hypotonia, and generalized muscle weakness, and the disorder... -
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