Article
Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene.
Neuromuscular disorders : NMD - 1 Oct 2004
van den Bosch B J C, de Coo I F M, Hendrickx A T M, Busch H F M, de Jong G, Scholte H R, Smeets H J M
Abstract excerpt
Screening the mitochondrial DNA of a 64-year-old woman with mitochondrial myopathy revealed 76% of the tRNA(Leu(UUR)) A3302G mutation in muscle. Muscle of her affected son carried 96% mutated mitochondrial DNA. Both patients were biopsied twice, showing isolated complex I deficiency in the son's first biopsy, additional increased (within normal range) complex II + III activities in his second biopsy, combined...
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