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- W2039678394 abstract "Accumulation of RNA 19 has been associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. We analyzed total RNA in muscle specimens from six patients who had one of three pathogenetic point mutations in the mitochondrial tRNA(Leu(UUR)) gene, including A3243G, T3271C, and T3303C. Mitochondrial processing intermediates were identified and quantitated by Northern blotting. The percentage of DNA with the mutation also was determined in each patient. The intermediate (RNA 19) was significantly increased in all patients. The proportion of mutation-carrying RNA in processing intermediates was always higher than in the DNA fraction, suggesting that these mutations may have dominant-negative effects on mitochondrial RNA processing events at the tRNA(Leu(UUR)) gene boundary." @default.
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- W2039678394 date "2003-03-01" @default.
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- W2039678394 title "Increased mitochondrial processing intermediates associated with three tRNALeu(UUR) gene mutations" @default.
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- W2039678394 doi "https://doi.org/10.1016/s0960-8966(02)00267-5" @default.
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