Articles with "variant mutation" as a keyword



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MPV17 Gene Variant Mutation Presenting as Leucoencephalopathy with Peripheral Neuropathy

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Published in 2021 at "Neurology India"

DOI: 10.4103/0028-3886.333468

Abstract: Mitochondrial DNA depletion syndromes (MDS) are rare mitochondrial disorders with evolving broad genotype and phenotype. This is a first case report from India about MPV 17, a mitochondrial inner membrane protein gene variant mutation, presenting… read more here.

Keywords: gene variant; mpv17 gene; mutation presenting; variant mutation ... See more keywords