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Article

Expanded GAA repeats and clinical variation in Friedreich's ataxia.

Acta neurologica Scandinavica - 1 Jan 2004

Mateo I, Llorca J, Volpini V, Corral J, Berciano J, Combarros O

Abstract excerpt

INTRODUCTION: One of the main features of Friedreich's ataxia (FA) is phenotypic variability that can now be explained by the molecular mechanism (GAA expansion) underlying the disease. MATERIALS AND METHODS: We have analyzed genotype-phenotype correlations in a group of 40 patients homozygous for the GAA expansion. RESULTS: The smaller GAA expansion (GAA1 allele) size correlated with age at onset and progression...

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Source

Identifiers

PMID: 14653855
DOI: 10.1034/j.1600-0404.2003.00190.x

Genes

GAA

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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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