TY - JOUR
T1 - X-linked myotubular myopathy in a family with two infant siblings
T2 - A case with MTM1 mutation
AU - Jeon, Ji Hyun
AU - Namgung, Ran
AU - Park, Min Soo
AU - Park, Kook In
AU - Lee, Chul
AU - Lee, Jin Sung
AU - Kim, Se Hoon
PY - 2011/5
Y1 - 2011/5
N2 - 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.
AB - 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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U2 - 10.3349/ymj.2011.52.3.547
DO - 10.3349/ymj.2011.52.3.547
M3 - Article
C2 - 21488203
AN - SCOPUS:79955583522
SN - 0513-5796
VL - 52
SP - 547
EP - 550
JO - Yonsei medical journal
JF - Yonsei medical journal
IS - 3
ER -