Article
Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.
Neurology - 27 Apr 2004
Taylor R W, Schaefer A M, McDonnell M T, Petty R K H, Thomas A M, Blakely E L, Hayes C M, McFarland R, Turnbull D M
Abstract excerpt
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.
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