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Article

Characterizing POLG ataxia: clinics, electrophysiology and imaging.

Cerebellum (London, England) - 1 Dec 2012

Synofzik Matthis, Srulijes Karin, Godau Jana, Berg Daniela, Schöls Ludger

Abstract excerpt

Mutations in the mitochondrial DNA polymerase gamma (POLG) cause a highly pleomorphic disease spectrum, and reports about their frequencies in ataxia populations yield equivocal results. This leads to uncertainties about the role of POLG genetics in the workup of patients with unexplained ataxia. A comprehensive characterization of POLG-associated ataxia (POLG-A) will help guide genetic diagnostics and advance...

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Source

Identifiers

PMID: 22528963
DOI: 10.1007/s12311-012-0378-2

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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