Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutation detection in an equivocal case of Friedreich's ataxia.

Pediatric neurology - 1 May 2000

Potter N T, Miller C A, Anderson I J

Abstract excerpt

Compound heterozygosity at the Friedreich's ataxia locus accounts for approximately 2% of molecularly confirmed cases. Genotype-phenotype correlation in this subgroup of patients reveals a spectrum of clinical variability. This report describes the clinical and molecular findings in a 6-year-old patient with Friedreich's ataxia who carried a pathologic GAA expansion of approximately 1,000 repeats on one allele...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Disease Progression
Share to Frataxin
Share to Friedreich Ataxia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Iron-Binding Proteins

Share to Phosphotransferases (Alcohol Group Acceptor)

Share to Point Mutation

Share to Polymorphism, Single-Stranded Conformational

Source

Identifiers

PMID: 10913738
DOI: 10.1016/s0887-8994(00)00136-3

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation detection in an equivocal case of Friedreich's ataxia.PMID 10913738Read ↗

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.Semantic proximity Read ↗

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.Semantic proximity Read ↗

Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutationsSemantic proximity Read ↗

Reduced Age‐Dependent Penetrance of a Large FGF14 GAA Repeat Expansion in a 74‐Year‐Old Woman from a German Family with SCA27BSemantic proximity Read ↗

Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia.Semantic proximity Read ↗

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia.Semantic proximity Read ↗

Identification of three novel frameshift mutations in patients with Friedreich's ataxia.Semantic proximity Read ↗

High Prevalence of the Intronic GAA- FGF14 Repeat Expansion in Dutch Patients With Late-Onset AtaxiaSemantic proximity Read ↗

Single-Tube Screen for Rapid Detection of Repeat Expansions in Seven Common Spinocerebellar Ataxias.Semantic proximity Read ↗

Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia.Semantic proximity Read ↗

[Molecular genetic diagnosis of Friedreich's ataxia. Ten years experience based on blood sample analysis].Semantic proximity Read ↗

Phenotypic variation of FXN compound heterozygotes in a Friedreich ataxia cohort.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.