Article
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.
Proceedings of the National Academy of Sciences of the United States of America - 8 Jul 1997
Cossée M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel J L, Koenig M
Abstract excerpt
Friedreich's ataxia, the most frequent inherited ataxia, is caused, in the vast majority of cases, by large GAA repeat expansions in the first intron of the frataxin gene. The normal sequence corresponds to a moderately polymorphic trinucleotide repeat with bimodal size distribution. Small normal alleles have approximately eight to nine repeats whereas a more heterogeneous mode of large normal alleles ranges from...
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