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Article

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

Human mutation - 1 Feb 2009

Taanman Jan-Willem, Rahman Shamima, Pagnamenta Alistair T, Morris Andrew A M, Bitner-Glindzicz Maria, Wolf Nicole I, Leonard James V, Clayton Peter T, Schapira Anthony H V

Abstract excerpt

We studied six unrelated children with depletion of mitochondrial DNA (mtDNA). They presented with Leigh syndrome, infantile hepatocerebral mtDNA depletion syndrome, or Alpers-Huttenlocher syndrome. Several genes have been implicated in mtDNA depletion. Screening of candidate genes indicated that all six patients were compound heterozygous for missense mutations in the gene for the catalytic subunit of DNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18828154
DOI: 10.1002/humu.20852

Genes

POLG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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