Neuromuscular Disorders
Volume 18, Issue 1 , Pages 63-67, January 2008

The m.5650G>A mitochondrial tRNAAla mutation is pathogenic and causes a phenotype of pure myopathy

  • Robert McFarland

      Affiliations

    • Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
    • Corresponding Author InformationCorresponding author. Tel.: +44 191 222 8334; fax: +44 191 222 8553.
    • ,
  • Helen Swalwell

      Affiliations

    • Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
    • ,
  • Emma L. Blakely

      Affiliations

    • Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
    • ,
  • Langping He

      Affiliations

    • Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
    • ,
  • Emma J. Groen

      Affiliations

    • Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK
    • ,
  • Douglass M. Turnbull

      Affiliations

    • Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
    • Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK
    • ,
  • Kate M. Bushby

      Affiliations

    • Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK
    • ,
  • Robert W. Taylor

      Affiliations

    • Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, The Medical School, Framlington Place, Newcastle University, Newcastle upon Tyne, England NE2 4HH, UK
    • Institute of Human Genetics, Newcastle University, International Centre for Life, Newcastle upon Tyne, UK

Received 20 March 2007; received in revised form 2 July 2007; accepted 16 July 2007.

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PII: S0960-8966(07)00680-3

doi:10.1016/j.nmd.2007.07.007

Neuromuscular Disorders
Volume 18, Issue 1 , Pages 63-67, January 2008

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