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Article

The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.

Journal of molecular medicine (Berlin, Germany) - 1 Jan 2001

Bit-Avragim N, Perrot A, Schöls L, Hardt C, Kreuz F R, Zühlke C, Bubel S, Laccone F, Vogel H P, Dietz R, Osterziel K J

Abstract excerpt

Friedreich's ataxia is an autosomal recessive disorder characterized by spinocerebellar degeneration. It is caused by an unstable GAA trinucleotide repeat expansion (>120 repeats) in the first intron of the frataxin gene on chromosome 9 (9q13) in both alleles. Concentric left ventricular hypertrophy has been recognized as the major cardiac manifestation of Friedreich's ataxia. Our aim was to investigate the...

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Share to Cardiomyopathy, Hypertrophic
Share to Chromosomes, Human, Pair 9

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Frataxin

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Share to Hypertrophy, Left Ventricular

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Share to Phosphotransferases (Alcohol Group Acceptor)

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Source

Identifiers

PMID: 11269509
DOI: 10.1007/s001090000162

Genes

GAA

Provenance

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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