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Lookup NU author(s): Professor Robert Taylor,
Dr Andrew Schaefer,
Professor Bobby McFarlandORCiD,
Emeritus Professor Doug Turnbull
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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