Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene.
case_report · Level V
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- Record sourced from PubMed, PMID 15111688.
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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.
Medical subject headings
- DNA, Mitochondrial
- Mitochondrial Diseases
- Mutation
- RNA, Transfer, His