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Article

Clinical and molecular features of POLG-related mitochondrial disease.

Cold Spring Harbor perspectives in biology - 1 Apr 2013

Stumpf Jeffrey D, Saneto Russell P, Copeland William C

Abstract excerpt

The inability to replicate mitochondrial genomes (mtDNA) by the mitochondrial DNA polymerase (pol γ) leads to a subset of mitochondrial diseases. Many mutations in POLG, the gene that encodes pol γ, have been associated with mitochondrial diseases such as myocerebrohepatopathy spectrum (MCHS) disorders, Alpers-Huttenlocher syndrome, myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neuropathy spectrum...

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Share to Crystallography, X-Ray
Share to DNA-Directed DNA Polymerase
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Polymerase gamma

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Source

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Identifiers

PMID: 23545419
DOI: 10.1101/cshperspect.a011395
PMCID: PMC3683902

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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