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Article

Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features.

Journal of neurology, neurosurgery, and psychiatry - 1 May 2000

McCormack M L, Guttmann R P, Schumann M, Farmer J M, Stolle C A, Campuzano V, Koenig M, Lynch D R

Abstract excerpt

Two patients with a progressive ataxia are presented with clinical features consistent with classic Friedreich's ataxia (FRDA), but also with features unusual for FRDA. Analysis of DNA showed that each patient is heterozygous for the expanded GAA repeat of FRDA, but carries a base change on his other frataxin allele. For one patient a non-conservative arginine to cysteine amino acid change is predicted at amino...

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Identifiers

PMID: 10766903
DOI: 10.1136/jnnp.68.5.661
PMCID: PMC1736939

Genes

GAA

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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