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Catastrophic presentation of mitochondrial disease due to a mutation in the tRNAHis gene

Lookup NU author(s): Professor Robert Taylor, Dr Andrew Schaefer, Christine Hayes, 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.

Publication metadata

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

Journal: Neurology

Year: 2004

Volume: 62

Issue: 8

Pages: 1420-1423

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams & Wilkins

PubMed id: 15111688