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Article

A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus.

Human genetics - 1 Jun 1996

Smeyers P, Monrós E, Vílchez J, Lopez-Arlandis J, Prieto F, Palau F

Abstract excerpt

Friedreich ataxia is an autosomal recessive neurodegenerative disorder. The genetic homogeneity to the FRDA locus on chromosome 9q13-21.1 has been observed in families from different ancestries. We report a Spanish family with two affected and three unaffected children. The segregated classical Friedreich ataxia did not show the expected linkage. The analysis focusses on flanking markers FR1, FR2, FR7 and FR5,...

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PMID: 8641704
DOI: 10.1007/BF02346197

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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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