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Article

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia.

Brain : a journal of neurology - 1 Dec 2014

Horga Alejandro, Pitceathly Robert D S, Blake Julian C, Woodward Catherine E, Zapater Pedro, Fratter Carl, Mudanohwo Ese E, Plant Gordon T, Houlden Henry, Sweeney Mary G, Hanna Michael G, Reilly Mary M

Abstract excerpt

Progressive external ophthalmoplegia is a common clinical feature in mitochondrial disease caused by nuclear DNA defects and single, large-scale mitochondrial DNA deletions and is less frequently associated with point mutations of mitochondrial DNA. Peripheral neuropathy is also a frequent manifestation of mitochondrial disease, although its prevalence and characteristics varies considerably among the different...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25281868
DOI: 10.1093/brain/awu279
PMCID: PMC4240292

Genes

POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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