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- W2080862544 abstract "<b><i>Article abstract</i></b> The authors report a novel A5874G mutation in the mitochondrial tRNA tyrosine (tRNA<sup>Tyr</sup>) gene associated with exercise intolerance, limb weakness, and complex III deficiency. The mutation was absent in blood from the patient and all maternal family members, indicating that it may be a spontaneous somatic mutation in muscle. This is the first point mutation in the tRNA<sup>Tyr</sup> gene associated with human disease and is further evidence that exercise intolerance associated with complex III deficiency is genetically heterogeneous." @default.
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- W2080862544 date "2000-10-24" @default.
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- W2080862544 title "A novel mutation in the mitochondrial tRNATyr gene associated with exercise intolerance" @default.
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- W2080862544 doi "https://doi.org/10.1212/wnl.55.8.1210" @default.
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