Journal of the Formosan Medical Association
Volume 107, Issue 12 , Pages 965-970, December 2008

X-linked Myotubular Myopathy with a Novel MTM1 Mutation in a Taiwanese Child

  • Chia-Ying Chang

      Affiliations

    • Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    • ,
  • Shuan-Pei Lin

      Affiliations

    • Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Early Childhood Care and Education, Mackay Medicine, Nursing and Management College, Taipei, Taiwan
    • Department of Infant and Child Care, National Taipei College of Nursing, Taipei, Taiwan
    • Corresponding Author InformationCorrespondence to: Dr Shuan-Pei Lin, Department of Pediatrics, Mackay Memorial Hospital, No. 92, Section 2, Chung-Shan North Road, Taipei 104, Taiwan
    • ,
  • Hsiang-Yu Lin

      Affiliations

    • Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Early Childhood Care and Education, Mackay Medicine, Nursing and Management College, Taipei, Taiwan
    • ,
  • Chih-Kuang Chuang

      Affiliations

    • Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Medical College, Fu-Jen Catholic University, Taipei, Taiwan
    • ,
  • Che-Sheng Ho

      Affiliations

    • Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan
    • Department of Early Childhood Care and Education, Mackay Medicine, Nursing and Management College, Taipei, Taiwan
    • ,
  • Yi-Ning Su

      Affiliations

    • Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan

Received 3 July 2007; received in revised form 17 August 2007; accepted 6 November 2007.

We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of the disease. He presented at birth with generalized hypotonia, difficulty in swallowing, and respiratory distress with frequent episodes of atelectasis. The infant had a long thin face, generalized hypotonia, and arachnodactyly. Diagnosis was based on fetal history, muscle histopathology, electron microscopy and a genetic study. A base pair change was detected in exon 11 of the MTM1 gene: c.1160C > A, which caused an amino acid change, p.S387Y. The father's gene was normal but the mother had the same mutation as her son and was thus a carrier.

Key Words:  arachnodactyly , centronuclear myopathy , myotubularin , X-linked myotubular myopathy

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PII: S0929-6646(09)60022-X

doi:10.1016/S0929-6646(09)60022-X

Journal of the Formosan Medical Association
Volume 107, Issue 12 , Pages 965-970, December 2008

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