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X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation

Authors
 Ji Hyun Jeon  ;  Ran Namgung  ;  Se Hoon Kim  ;  Jin Sung Lee  ;  Chul Lee  ;  Kook In Park  ;  Min Soo Park 
Citation
 Yonsei Medical Journal, Vol.52(3) : 547-550, 2011 
Journal Title
 Yonsei Medical Journal 
ISSN
 0513-5796 
Issue Date
2011
Abstract
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 is most often complicated by respiratory failure. Herein, we describe a family with 2 infants with XLMTM which was diagnosed by gene analysis and muscle biopsy. In both cases, histological findings of muscle showed severely hypoplastic muscle fibers with centrally placed nuclei. From the family gene analysis, the Arg486STOP mutation in the MTM1 gene was confirmed.
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/93903
DOI
10.3349/ymj.2011.52.3.547
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실)
Yonsei Authors
김세훈(Kim, Se Hoon) ; 남궁란(Namgung, Ran) ; 박국인(Park, Kook In) ; 박민수(Park, Min Soo) ; 이진성(Lee, Jin Sung) ; 이철(Lee, Chul)
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