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mitochondrial DNA deletion syndrome


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The hepatocerebral form of mitochondrial DNA (mtDNA) depletion syndrome can be caused by mutation in the nuclear-encoded mitochondrial deoxyguanosine kinase gene, the MPV17 gene or the C10ORF2 gene that encodes twinkle. The myopathic form of mtDNA depletion syndrome is caused by mutation in the nuclear-encoded mitochondrial thymidine kinase gene and the encephalomyopathic form is caused by mutation in the succinyl-CoA synthase gene.

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