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  • Title: Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNA(Leu(UUR))].
    Author: Obermaier-Kusser B, Paetzke-Brunner I, Enter C, Müller-Höcker J, Zierz S, Ruitenbeek W, Gerbitz KD.
    Journal: FEBS Lett; 1991 Jul 29; 286(1-2):67-70. PubMed ID: 1713858.
    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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