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Article

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases.

Brain : a journal of neurology - 1 Jul 2006

Tzoulis Charalampos, Engelsen Bernt A, Telstad Wenche, Aasly Jan, Zeviani Massimo, Winterthun Synnøve, Ferrari Gianfrancesco, Aarseth Jan H, Bindoff Laurence A

Abstract excerpt

We studied 26 patients belonging to 20 families with a disorder caused by mutations in the POLG gene. The patients were homozygous for 1399 G/A or 2243 G/C (giving the amino acid changes A467T and W748S, respectively) or compound heterozygotes for these two mutations. Irrespective of genotype, th...

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Source

Identifiers

PMID: 16638794
DOI: 10.1093/brain/awl097

Genes

POLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16638794-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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