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Neurology. 2004 Apr 27;62(8):1420-3.

Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.

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Mitochondrial Research Group, School of Neurology, Neurobiology, and Psychiatry, The Medical School, University of Newcastle upon Tyne, 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.

[Indexed for MEDLINE]

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