Neuromuscular Disorders
Volume 19, Issue 12 , Pages 841-844 , December 2009

Neuromuscular disease presentation with three genetic defects involving two genomes

  • Mazhor Al-Dosary

      Affiliations

    • Mitochondrial Research Group and NCG Rare Mitochondrial Disorders of Adults and Children Service, Newcastle University, Newcastle upon Tyne, UK
    • ,
  • Roger G. Whittaker

      Affiliations

    • Mitochondrial Research Group and NCG Rare Mitochondrial Disorders of Adults and Children Service, Newcastle University, Newcastle upon Tyne, UK
    • ,
  • Joanna Haughton

      Affiliations

    • Regional Neurosciences Centre, Newcastle General Hospital, Newcastle upon Tyne, UK
    • ,
  • Robert McFarland

      Affiliations

    • Mitochondrial Research Group and NCG Rare Mitochondrial Disorders of Adults and Children Service, Newcastle University, Newcastle upon Tyne, UK
    • ,
  • Judith Goodship

      Affiliations

    • Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    • ,
  • Douglass M. Turnbull

      Affiliations

    • Mitochondrial Research Group and NCG Rare Mitochondrial Disorders of Adults and Children Service, Newcastle University, Newcastle upon Tyne, UK
    • ,
  • Robert W. Taylor

      Affiliations

    • Mitochondrial Research Group and NCG Rare Mitochondrial Disorders of Adults and Children Service, Newcastle University, Newcastle upon Tyne, UK
    • Corresponding Author InformationCorresponding author. Address: Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne NE2 4HH, UK. Tel.: +44 191 2223685; fax: +44 191 2824373.

Received 12 August 2009 ,Revised 16 September 2009 ,Accepted 2 October 2009.

References 

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  17. Cardaioli E, Da Pozzo P, Radi E, Dotti MT, Federico A. A novel heteroplasmic tRNALeu(CUN) mtDNA point mutation associated with chronic progressive external ophthalmoplegia. Biochem Biophys Res Commun. 2005;327:675–678
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PII: S0960-8966(09)00652-X

doi: 10.1016/j.nmd.2009.10.001

Neuromuscular Disorders
Volume 19, Issue 12 , Pages 841-844 , December 2009

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