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Pronunciation: nahrp

Definition: Acronym for neuropathy, ataxia, retinitis pigmentosa syndrome, one of the inherited mitochondrial disorders, caused by a point mutation resulting in the substitution of a single amino acid in the mitochondrial DNA at position 8993. A more severe expression of the same point mutation manifests clinically as Leigh disease (q.v.).

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.