Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene
R W Taylor1, A M Schaefer, M T McDonnell
1Mitochondrial Research Group, School of Neurology, Neurobiology, and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK. r.w.taylor@ncl.ac.uk
Neurology
|April 28, 2004
Abstract:
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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