Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNALeu(UUR)]
- 29 July 1991
- journal article
- Published by Wiley in FEBS Letters
- Vol. 286 (1-2) , 67-70
- https://doi.org/10.1016/0014-5793(91)80942-v
Abstract
A heteroplasmic point mutation (transition A to G at position 3243 in the mitochondrial tRNALeu(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 genomeKeywords
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