- Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations
-
Lee EH, Yum MS, Park SJ, Lee BH, Kim GH, Yoo HW, Ko TS
- KMID: 2287572
- J Clin Neurol.
- 2013 Jan;9(1):57-60.
- doi: 10.3988/jcn.2013.9.1.57
BACKGROUND: Myotubular myopathy (MTM) is a congenital myopathy characterized by centrally placed nuclei in muscle fibers. Mutations in the myotubularin 1 gene (MTM1) have been identified in the most of... -
- CITED
-
- Close
- SHARE
-
- Close
- X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation
-
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... -
- CITED
-
- Close
- SHARE
-
- Close
