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Publication:

Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency (2011)

Author(s): Kemp JP, Smith PM, Pyle A, Neeve VCM, Tuppen HAL, Schara U, Talim B, Topaloglu H, Holinski-Feder E, Abicht A, Czermin B, Lochmuller H, McFarland R, Chinnery PF, Chrzanowska-Lightowlers ZM, Lightowlers RN, Taylor RW, Horvath R

      • Date: 17-12-2010
      • Journal: Brain
      • Volume: 134
      • Issue: 1
      • Pages: 183-195
      • Publisher: Oxford University Press
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: mitochondrial translation combined respiratory chain deficiency early-onset encephalomyopathy SIDEROBLASTIC ANEMIA-MLASA C-OXIDASE DEFICIENCY RNA-SYNTHETASE GENE DNA DEPLETION MOLECULAR-BASIS MUTATION DISEASE MYOPATHY LEUKOENCEPHALOPATHY ENCEPHALOMYOPATHY

      Staff

      Professor Robert Lightowlers
      Director, ICaMB and Professor of Molecular Neuroscience

      Dr Bobby McFarland
      DoH/HEFCE Clinical Senior Lecturer and Consultant Paediatric Neurologist