Article
A novel deletion-insertion mutation identified in exon 3 of FXN in two siblings with a severe Friedreich ataxia phenotype.
Neurogenetics - 1 Nov 2011
Evans-Galea Marguerite V, Corben Louise A, Hasell Justin, Galea Charles A, Fahey Michael C, du Sart Desirée, Delatycki Martin B
Abstract excerpt
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease most commonly caused by a GAA trinucleotide repeat expansion in the first intron of FXN, which reduces expression of the mitochondrial protein frataxin. Approximately 98% of individuals with FRDA are homozygous for GAA expansions, with the remaining 2% compound heterozygotes for a GAA expansion and a point mutation within FXN. Two...
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