Publication:

Childhood neurological presentation of a novel mitochondrial tRNA(Val) gene mutation (2004)

Author(s): Blakely EL, Poulton J, Pike M, Wojnarowska F, Turnbull PM, McFarland R, Taylor RW

      • Date: 26-08-2004
      • Journal: Journal of the Neurological Sciences
      • Volume: 225
      • Issue: 1-2
      • Pages: 99-103
      • Publisher: Elsevier BV
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: mitochondrial DNA; tRNA mutation; heteroplasmy; paediatric presentation; movement disorder; complex-I deficiency; DNA mutations; disease; ichthyosis; patient

      Staff

      Professor Robert Taylor
      Professor of Mitochondrial Pathology