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Matches in SemOpenAlex for { <https://semopenalex.org/work/W2007122274> ?p ?o ?g. }

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• W2007122274 abstract "A patient with mitochondrial encephalomyopathy who died from progressive intractable cardiac failure at the age of 18 is reported. At the age of 4, he presented with short stature, but multiorgan disorders including deafness, focal glomerulosclerosis, epilepsy and dilated cardiomyopathy appeared later in his clinical course. Laboratory tests showed hyperlactatemia and hyperpyruvatemia. Histopathological findings demonstrated mitochondrial myopathy with ragged red fibers and focal cytochrome C oxidase-deficient fibers in skeletal and cardiac muscles. The activity of cytochrome C oxidase was 30% less than the control level in skeletal muscle. Sequencing of the entire mitochondrial tRNA genome revealed a novel point mutation in the tRNAlle region (nt 4269). This A-to-G substitution was found in none of the 30 controls by screening using mispairing PCR and Ssp I digestion methods, suggesting that this new mutation was pathogenic in our case." @default.
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• W2007122274 date "1992-07-01" @default.
• W2007122274 modified "2023-10-16" @default.
• W2007122274 title "Mitochondrial tRNAlle mutation in fatal cardiomyopathy" @default.
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• W2007122274 doi "https://doi.org/10.1016/s0006-291x(05)80773-9" @default.
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