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The Friedreichataxia phenotype is the most frequent clinical presentation.
2
Friedreichataxia (FA) is an autosomal recessive degenerative disease of the nervous system of unknown biochemical cause.
3
Reduced expression of a mitochondrial protein called frataxin causes a neurodegenerative disorder named FriedreichAtaxia, which decreases life span in humans.
4
We present a linkage study of three large Friedreichataxia families of Tunisian origin, with several multiallelic markers around D9S5 and D9S15.
5
Precise linkage mapping of the Friedreichataxia locus (FRDA) in 9q13-q21 should lead to the isolation of the defective gene by positional cloning.