Article
[Unusual molecular changes in two families with Friedreich's ataxia].
Neurologia (Barcelona, Spain) - 1 Sept 2003
González M C, Díaz-Golpe V, Hernández L, Martin S, Fernández F
Abstract excerpt
Friedreich's ataxia is an autosomal recessive disease generally characterized by the presence of microsatellite expansion in a GAA triplet. The patients inherit a pathologic allele from each one of their parents, that may sometimes show GAA triplet expansions or contractions. Two familial studies of typical Friedreich's ataxia are described. Their molecular study demonstrated marked intergenerational instability...
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