RT Journal Article
SR Electronic
T1 Catastrophic presentation of mitochondrial disease due to a mutation in the <em>tRNA</em><sup>His</sup> gene
JF Neurology
JO Neurology
FD Lippincott Williams &amp; 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.