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Article

A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like.

Pathologie-biologie - 1 Feb 2014

Maalej M, Mkaouar-Rebai E, Mnif M, Mezghani N, Ben Ayed I, Chamkha I, Abid M, Fakhfakh F

Abstract excerpt

Genes encoding the DNA helicase TWINKLE (C10orf2) or the two subunits of mtDNA polymerase γ (POLγ) (POLG1 and POLG2) have a direct effect on the mitochondrial DNA replication machinery and were reported in many mitochondrial disorders. Friedreich's ataxia (FRDA) is the common cause of ataxia often associated with the expansion of a GAA repeat in intron 1 of the frataxin gene (FXN). Mitochondrial DNA could be...

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Source

Identifiers

PMID: 24011957
DOI: 10.1016/j.patbio.2013.07.013

Genes

FXN
GAA
POLG2

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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