X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation
Ji Hyun Jeon ; Ran Namgung ; Se Hoon Kim ; Jin Sung Lee ; Chul Lee ; Kook In Park ; Min Soo Park
Yonsei Medical Journal, Vol.52(3) : 547~550, 2011
Yonsei Medical Journal
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.