A novel mutation in the mitochondrial tRNATyr gene associated with exercise intolerance

The authors report a novel A5874G mutation in the mitochondrial tRNA tyrosine (tRNA(Tyr)) 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(Tyr) gene associated with human disease and is further evidence that exercise intolerance associated with complex III deficiency is genetically heterogeneous.