Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene |
| |
| Authors: | 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 |
| |
| Affiliation: | Mitochondrial Research Group, School of Neurology, Neurobiology, and Psychiatry, The Medical School, University of Newcastle upon Tyne, UK. r.w.taylor@ncl.ac.uk |
| |
| 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. |
| |
| Keywords: | |
| 本文献已被 PubMed 等数据库收录！ |
|
