RT Journal Article SR Electronic T1 Catastrophic presentation of mitochondrial disease due to a mutation in the tRNAHis gene JF Neurology JO Neurology FD Lippincott Williams & Wilkins SP 1420 OP 1423 DO 10.1212/01.WNL.0000120667.77372.46 VO 62 IS 8 A1 Taylor, R. W. A1 Schaefer, A. M. A1 McDonnell, M. T. A1 Petty, R. K.H. A1 Thomas, A. M. A1 Blakely, E. L. A1 Hayes, C. M. A1 McFarland, R. A1 Turnbull, D. M. YR 2004 UL http://n.neurology.org/content/62/8/1420.abstract AB 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-) tRNAHis 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.