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Friedreich's ataxia I. Clinical, Neurophysiological and in vivo biochemical studies

✍ Scribed by A. D'Angelo; S. Di Donato; G. Crenna; S. Negri; F. Beulche; G. Uziel; R. Boeri

Book ID
105537621
Publisher
Springer Milan
Year
1979
Tongue
English
Weight
596 KB
Volume
1
Category
Article
ISSN
1590-1874

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## Abstract Friedreich's ataxia (FA) is the most common form of autosomal recessive spinocerebellar ataxia and is often associated with a cardiomyopathy. The disease is caused by an expanded intronic GAA repeat, which results in deficiency of a mitochondrial protein called __frataxin__. In the yeas