Friedreich ataxia (FRDA) is an autosomal recessive disorder, the most common of the inherited ataxias. It has an estimated prevalence of 1 in 50 000 and a carrier frequency of about 1 in 90 in Caucasians (Cosse Β΄e et al., 1997;Leone et al., 1990). It is extremely rare among the Chinese and Japanese
Molecular basis of Friedreich ataxia
β Scribed by Massimo Pandolfo
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 54 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0885-3185
- DOI
- 10.1002/mds.1162
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## Abstract Friedreich ataxia is an inherited, progressive, neurodegenerative disorder that is clinically heterogeneous. It is caused by a trinucleotide (GAA) repeat expansion resulting in frataxin loss and oxidative stress. We assessed clinical features including the development of cardiomyopathy