- 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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- The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses
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Sohn YB, Yim SY, Cho EH, Kim OH
- KMID: 2129654
- J Korean Med Sci.
- 2015 Feb;30(2):214-217.
- doi: 10.3346/jkms.2015.30.2.214
Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including... -
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