Article
Clinical and genetic abnormalities in patients with Friedreich's ataxia.
The New England journal of medicine - 17 Oct 1996
Dürr A, Cossee M, Agid Y, Campuzano V, Mignard C, Penet C, Mandel J L, Brice A, Koenig M
Abstract excerpt
BACKGROUND: Friedreich's ataxia, the most common inherited ataxia, is associated with a mutation that consists of an unstable expansion of GAA repeats in the first intron of the frataxin gene on chromosome 9, which encodes a protein of unknown function. METHODS: We studied 187 patients with autosomal recessive ataxia, determined the size of the GAA expansions, and analyzed the clinical manifestations in relation...
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