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The pathogenesis of Friedreich ataxia and the structure and function of frataxin

✍ Scribed by Massimo Pandolfo; Annalisa Pastore

Book ID: 106094309
Publisher: Springer
Year: 2009
Tongue: English
Weight: 637 KB
Volume: 256
Category: Article
ISSN: 0340-5354
DOI: 10.1007/s00415-009-1003-2

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## Abstract ## Background: Friedreich ataxia is an autosomal recessive disorder caused by mutations in the __frataxin__ gene, leading to reduced levels of the mitochondrial protein frataxin. Assays to quantitatively measure frataxin in peripheral blood have been established. To determine the valid