1.
Neurology
; 62(8): 1420-3, 2004 Apr 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15111688
RESUMO
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.