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Article

Biochemical analysis of human POLG2 variants associated with mitochondrial disease.

Human molecular genetics - 1 Aug 2011

Young Matthew J, Longley Matthew J, Li Fang-Yuan, Kasiviswanathan Rajesh, Wong Lee-Jun, Copeland William C

Abstract excerpt

Defects in mitochondrial DNA (mtDNA) maintenance comprise an expanding repertoire of polymorphic diseases caused, in part, by mutations in the genes encoding the p140 mtDNA polymerase (POLG), its p55 accessory subunit (POLG2) or the mtDNA helicase (C10orf2). In an exploration of nuclear genes for...

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Source

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Identifiers

PMID: 21555342
DOI: 10.1093/hmg/ddr209
PMCID: PMC3131046

Genes

POLG2
POLG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21555342-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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