Article
Heterozygous expansion of the GAA tract of the X25/frataxin gene is associated with insulin resistance in humans.
Diabetes - 1 Sept 2000
Hebinck J, Hardt C, Schöls L, Vorgerd M, Briedigkeit L, Kahn C R, Ristow M
Abstract excerpt
Friedreich's ataxia (FA) is an autosomal recessive disease that has been attributed to a GAA triplet repeat expansion in the first intron of the X25/frataxin gene. Impaired glucose tolerance is present in up to 39% of FA patients, and clinically apparent diabetes is seen in approximately 18% of the affected individuals. Subjects carrying the X25/frataxin GAA repeat in a heterozygous state do not develop FA and,...
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