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Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA^His gene

From the Mitochondrial Research Group (Drs. Taylor, Blakely, Turnbull, Schaefer, and McFarland, M.T. McDonnell and C.M. Hayes), School of Neurology, Neurobiology, and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK; and Department of Neurology (Drs. Thomas and Petty), Southern General Hospital, Glasgow, UK.

Address correspondence and reprint requests to Dr. Robert W. Taylor, Mitochondrial Research Group, School of Neurology, Neurobiology, and Psychiatry, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, NE2 4HH, UK; e-mail: r.w.taylor{at}ncl.ac.uk

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-) tRNA^His 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.

Received October 15, 2003. Accepted in final form December 11, 2003.