An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene.

@article{Ristow1998AnAB,
  title={An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene.},
  author={Michael Ristow and Eleni Giannakidou and J Hebinck and Kerstin Busch and Matthias Vorgerd and J{\"o}rg Kotzka and Birgit Knebel and Jan Mueller-Berghaus and Conny Epplen and Andreas F.H. Pfeiffer and C Ronald Kahn and Alessandro Doria and Wilhelm Krone and Dirk M{\"u}ller-Wieland},
  journal={Diabetes},
  year={1998},
  volume={47 5},
  pages={
          851-4
        }
}
Friedreich's ataxia is the most common hereditary ataxia and is frequently associated with disturbances of glucose metabolism. This autosomal recessive disease is caused by the decreased expression of a mitochondrial protein, frataxin, encoded by the X25 gene. Homozygous expansion of a GAA repeat in the first intron of X25 inhibits frataxin expression and is associated with clinical disease. We evaluated whether heterozygous expansions of the triplet repeat in the frataxin gene X25 may be… CONTINUE READING

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