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Article

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.

American journal of human genetics - 1 Jun 2006

Longley Matthew J, Clark Susanna, Yu Wai Man Cynthia, Hudson Gavin, Durham Steve E, Taylor Robert W, Nightingale Simon, Turnbull Douglass M, Copeland William C, Chinnery Patrick F

Abstract excerpt

DNA polymerase gamma (pol gamma ) is required to maintain the genetic integrity of the 16,569-bp human mitochondrial genome (mtDNA). Mutation of the nuclear gene for the catalytic subunit of pol gamma (POLG) has been linked to a wide range of mitochondrial diseases involving mutation, deletion, a...

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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: 16685652
DOI: 10.1086/504303
PMCID: PMC1474082

Genes

POLG2
POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16685652-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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