Friedreich ataxia is an autosomal recessive disorder caused by mutations in the FRDA gene that encodes a 210-amino acid protein called frataxin. An expansion of a GAA trinucleotide repeat in intron 1 of the gene is present in more than 95% of mutant alleles. Of the 83 people we studied who have muta
Clinical and genetic study of autosomal recessive cerebellar ataxia type 1
✍ Scribed by Nicolas Dupré; François Gros-Louis; Nicolas Chrestian; Steve Verreault; Denis Brunet; Danielle de Verteuil; Bernard Brais; Jean-Pierre Bouchard; Guy A. Rouleau
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 159 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0364-5134
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