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Publication:

MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle (2012)

Author(s): Blakely EL, Butterworth A, Hadden RDM, Bodi I, He LP, McFarland R, Taylor RW

      • Date: 01-07-2012
      • Journal: Neuromuscular Disorders
      • Volume: 22
      • Issue: 7
      • Pages: 587-591
      • Publisher: Elsevier Ltd
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: Mitochondrial DNA mtDNA maintenance Multiple mtDNA deletions Neuropathy COX-deficient fibres MITOCHONDRIAL-DNA DEPLETION PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA THYMIDINE KINASE GENE PROTEIN MYOPATHY TWINKLE DISEASE CELLS FORM

      Staff

      Dr Langping He
      Guest Status

      Dr Bobby McFarland
      Clinical Senior Lecturer and Hon Consultant Paediatric Neurologist

      Professor Robert Taylor
      Professor of Mitochondrial Pathology