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Friedreich's ataxia: A clinical and genetic analysis

✍ Scribed by P. Leema Reddy; Raji P. Grewal

Book ID
116369109
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
88 KB
Volume
109
Category
Article
ISSN
0303-8467

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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