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Case Reports
. 1991 Jul 29;286(1-2):67-70.
doi: 10.1016/0014-5793(91)80942-v.

Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))]

B Obermaier-Kusser  1 , I Paetzke-Brunner, C Enter, J Müller-Höcker, S Zierz, W Ruitenbeek, K D Gerbitz
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Free article
Case Reports

Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))]

B Obermaier-Kusser et al. FEBS Lett. .
Free article

Abstract

A heteroplasmic point mutation (transition A to G at position 3243 in the mitochondrial tRNA(Leu(UUR)) gene is indicative for myo-encephalopathy with lactic acidosis and stroke-like episodes (MELAS). Decreased respiratory chain complex activities measured in different tissues from four patients with MELAS syndrome do not correlate with the proportion of mutated mitochondrial genome.

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