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Article

Frataxin gene point mutations in Italian Friedreich ataxia patients.

Neurogenetics - 1 Nov 2007

Gellera Cinzia, Castellotti Barbara, Mariotti Caterina, Mineri Rossana, Seveso Viviana, Didonato Stefano, Taroni Franco

Abstract excerpt

Friedreich ataxia (FRDA) is associated with a GAA-trinucleotide-repeat expansion in the first intron of the FXN gene (9q13-21), which encodes a 210-amino-acid protein named frataxin. More than 95% of patients are homozygous for 90-1,300 repeat expansion on both alleles. The remaining patients have been shown to be compound heterozygous for a GAA expansion on one allele and a micromutation on the other. The...

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Source

Identifiers

PMID: 17703324
DOI: 10.1007/s10048-007-0101-5

Genes

GAA
FXN

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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