Lookup NU author(s): Professor Robert Taylor,
Dr Andrew Schaefer,
Professor Bobby McFarland,
Professor Doug Turnbull
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
The authors describe a patient who presented with headache, seizures, and severe cerebral edema in whom they identified a novel mutation in the mitochondrial (mt-) tRNAHis gene. This G12147A transition is heteroplasmic, predicted to disrupt a highly conserved base pair, and segregates with the cytochrome c oxidase deficiency in single muscle fibers.
Author(s): Taylor RW, Schaefer AM, McDonnell MT, Petty RKH, Thomas AM, Blakely EL, Hayes CM, McFarland R, Turnbull DM
Publication type: Article
Publication status: Published
ISSN (print): 0028-3878
ISSN (electronic): 1526-632X
Publisher: Lippincott Williams & Wilkins
PubMed id: 15111688