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Article

High frequency of Friedreich's ataxia carriers in the Paphos district of Cyprus.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology - 1 Jul 2009

Zamba-Papanicolaou E, Koutsou P, Daiou C, Gaglia E, Georghiou A, Christodoulou K

Abstract excerpt

A cluster of Friedreich's ataxia patients has been previously investigated in two neighbouring villages of the Paphos district of Cyprus. Molecular genetic studies revealed that all patients had the most common mutation, a homozygous expansion of the GAA triplet repeat in the first intron of the...

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Identifiers

PMID: 19772192
PMCID: PMC2859631

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19772192-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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High frequency of Friedreich's ataxia carriers in the Paphos district of Cyprus.PMID 19772192Read ↗

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

Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.Semantic proximity Read ↗

North and South Indian populations share a common ancestral origin of Friedreich's ataxia but vary in age of GAA repeat expansion.Semantic proximity Read ↗

Age of the intronic GAA triplet repeat expansion mutation in Friedreich ataxia.Semantic proximity Read ↗

Absence of aprataxin gene mutations in a Greek cohort with sporadic early onset ataxia and normal GAA triplets in frataxin gene.Semantic proximity Read ↗

Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.Semantic proximity Read ↗

The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.Semantic proximity Read ↗

Friedreich Ataxia: current status and future prospectsSemantic proximity Read ↗

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