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Article

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.

Cellular and molecular life sciences : CMLS - 1 Jan 2011

Stumpf Jeffrey D, Copeland William C

Abstract excerpt

DNA polymerase γ (pol γ), encoded by POLG, is responsible for replicating human mitochondrial DNA. About 150 mutations in the human POLG have been identified in patients with mitochondrial diseases such as Alpers syndrome, progressive external ophthalmoplegia, and ataxia-neuropathy syndromes. Because many of the mutations are described in single citations with no genotypic family history, it is important to...

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Source

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Identifiers

PMID: 20927567
DOI: 10.1007/s00018-010-0530-4
PMCID: PMC3046768

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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