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• W1964627796 abstract "We report an Italian family with maternally inherited encephalomyopathy including progressive external ophthalmoplegia, seizures, and neurophysiological evidence of brainstem dysfunction. Mitochondrial DNA analysis showed a heteroplasmic point mutation at position 5814 in the tRNA gene for cysteine (A5814G), previously reported in a 5-year-old girl of Portuguese origin. The mutation was very abundant (> 95%) in both muscle and blood from the proposita and was present in lower proportions (average 85 +/- 6%) in blood from three less severely affected maternal relatives. This observation confirms pathogenicity for the A5814G mutation." @default.
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• W1964627796 date "1997-05-01" @default.
• W1964627796 modified "2023-10-17" @default.
• W1964627796 title "Mitochondrial tRNACys gene mutation (A5814G): a second family with mitochondrial encephalopathy" @default.
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• W1964627796 doi "https://doi.org/10.1016/s0960-8966(97)00444-6" @default.
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