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Article

Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort.

Annals of clinical and translational neurology - 1 May 2024

Shen Megan M, Rummey Christian, Lynch David R

Abstract excerpt

OBJECTIVE: Most individuals with Friedreich ataxia (FRDA) have homozygous GAA triplet repeat expansions in the FXN gene, correlating with a typical phenotype of ataxia and cardiomyopathy. A minority are compound heterozygotes carrying a GAA expansion on one allele and a mutation on the other. The study aim was to examine phenotypic variation among compound heterozygotes. METHODS: Data on FXN mutations were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38396238
DOI: 10.1002/acn3.52027
PMCID: PMC11093247

Genes

FXN
GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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