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MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy

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0 Published in 2019 at "Clinical Genetics"

DOI: 10.1111/cge.13462

Abstract: MPV17 encodes a putative channel‐forming protein of the inner mitochondrial membrane and is involved in mitochondrial deoxynucleotide homeostasis. MPV17 mutations were first reported in patients with Navajo neurohepatopathy, an autosomal recessive mitochondrial DNA depletion syndrome,… read more here.

Keywords: adult onset; mpv17 mutations; mpv17; mutations juvenile ... See more keywords