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Article

Novel intragenic deletion within the FXN gene in a patient with typical phenotype of Friedreich ataxia: may be more prevalent than we think?

BMC medical genomics - 1 Dec 2023

Aguilera Cinthia, Esteve-Garcia Anna, Casasnovas Carlos, Vélez-Santamaria Valentina, Rausell Laura, Gargallo Pablo, Garcia-Planells Javier, Alía Pedro, Llecha Núria, Padró-Miquel Ariadna

Abstract excerpt

BACKGROUND: Friedreich ataxia is the most common inherited ataxia in Europe and is mainly caused by biallelic pathogenic expansions of the GAA trinucleotide repeat in intron 1 of the FXN gene that lead to a decrease in frataxin protein levels. Rarely, affected individuals carry either a large intragenic deletion or whole-gene deletion of FXN on one allele and a full-penetrance expanded GAA repeat on the other...

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Identifiers

PMID: 38041144
DOI: 10.1186/s12920-023-01743-0
PMCID: PMC10693098

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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