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Mitochondrial impairment of human muscle in Friedreich ataxia in vivo

✍ Scribed by M Vorgerd; L Schöls; C Hardt; M Ristow; J.T Epplen; J Zange

Book ID
117669309
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
139 KB
Volume
10
Category
Article
ISSN
0960-8966

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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