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

doi:10.1007/BF02346197

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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 F...

Topics

Adaptor Proteins, Signal Transducing
Adolescent
Adult
Female
Friedreich Ataxia
Genetic Heterogeneity
Genetic Linkage
Genetic Markers
Humans
Male
Nerve Tissue Proteins
Pedigree
Phenotype
Spain

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