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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  ;  Min Soo Park  ;  Kook In Park  ;  Chul Lee  ;  Jin Sung Lee  ;  Se Hoon Kim 
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.
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DOI
10.3349/ymj.2011.52.3.547
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Kim, Se Hoon(김세훈) ORCID logo https://orcid.org/0000-0001-7516-7372
Namgung, Ran(남궁란) ORCID logo https://orcid.org/0000-0001-7182-9535
Park, Kook In(박국인) ORCID logo https://orcid.org/0000-0001-8499-9293
Park, Min Soo(박민수) ORCID logo https://orcid.org/0000-0002-4395-9938
Lee, Jin Sung(이진성) ORCID logo https://orcid.org/0000-0002-1262-8597
Lee, Chul(이철)
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/93903
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