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 ,Revised 17 August 2007 ,Accepted 6 November 2007.

References 

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  15. Biancalana V , Caron O , Gallati S , et al.   Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype . Hum Genet . 2003;112:135–142
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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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