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Article

De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.

Mitochondrion - 1 Sept 2009

Chan Sherine S L, Naviaux Robert K, Basinger Alice A, Casas Kari A, Copeland William C

Abstract excerpt

Mutations in POLG are a major contributor to pediatric and adult mitochondrial diseases. However, the consequences of many POLG mutations are not well understood. We investigated the molecular cause of Alpers syndome in a patient harboring the POLG mutations A467T in trans with c.2157+5_+6 gc-->ag in intron 12. Analysis of transcripts arising from the c.2157+5_+6 gc-->ag allele revealed alternative splicing with...

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Share to Codon, Nonsense
Share to Diffuse Cerebral Sclerosis of Schilder

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Directed DNA Polymerase

Share to DNA Polymerase gamma

Share to Mutagenesis, Insertional

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Source

Open in PubMed Open full text

Identifiers

PMID: 19501198
DOI: 10.1016/j.mito.2009.05.002
PMCID: PMC2748142

Genes

POLG

Variants

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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