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- W2893213104 abstract "Abstract Mutations in ATP6 gene are frequent causes of mitochondrial encephalomyopathies. ATP6 gene encodes one subunit of complexⅤ. The present study described a missense mutation in ATP6 gene in a 8‐year‐old Chinese boy with mitochondrial encephalomyopathy. We identified one missense mutation in ATP6 gene (m.8914C>T) by mitochondrial DNA sequencing. This mutation altered the amino acid proline in serine, and alterative protein is predicted to be harmful. The mutation load in blood sample of patient is 59.49%. Activity of all mitochondrial complexes in blood are normal, however, the total function of mitochondrial oxidative phosphorylation were declined (including pathwayⅠ, pathwayⅡ and pathwayⅣ). The missense mutation (m.8914C>T) in ATP6 gene could result in abnormal function of complexV and is related with mitochondrial encephalomyopathy." @default.
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- W2893213104 date "2018-09-28" @default.
- W2893213104 modified "2023-10-18" @default.
- W2893213104 title "The biochemical characterization of a missense mutation m.8914C>T in <i>ATP6</i> gene associated with mitochondrial encephalomyopathy" @default.
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- W2893213104 doi "https://doi.org/10.1016/j.ijdevneu.2018.09.007" @default.
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