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Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome
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Introduction: Twinkle, the mitochondrial helicase encoded by C10orf2, serves a key function in mtDNA replication and its mutations associated with a broad spectrum of clinical conditions characterized by qualitative or quantitative defects of mtDNA, including infantile-onset spinocerebellar ataxia (IOSCA), progressive external ophthalmoplegia, and the hepatocerebral mtDNA depletion syndrome (MDS). The signs in IOSCA demonstrate a fairly distinct pattern. Among these, peripheral neuropathy seems to be the most common presenting feature in C10orf2 defects.
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Twinkle Doenças Genéticas