X-linked myotubular myopathy in a family with two infant siblings: a case with MTM1 mutation |
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| Authors: | Jeon Ji Hyun Namgung Ran Park Min Soo Park Kook In Lee Chul Lee Jin Sung Kim Se Hoon |
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| Institution: | 1Department of Pediatrics, CHA Gangnam Medical Center, CHA University, Seoul, Korea.;2Department of Pediatrics, Severance Children''s Hospital, Yonsei University College of Medicine, Seoul, Korea.;3Department of Clinical Genetics, Severance Children''s Hospital, Yonsei University College of Medicine, Seoul, Korea.;4Department of Pathology, Yonsei University College of Medicine, Seoul, Korea. |
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| 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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| Keywords: | X-linked recessive myotubular myopathy Centronuclear myopathy Hypotonia Polyhydramnios |
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