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Friedreich Ataxia Research Paper

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Friedreich Ataxia Research Paper
Friedreich ataxia (FRDA, OMIM 229300) is an autosomal recessive predominantly neurodegenerative disorder caused in most cases by mutations in the first intron of the frataxin (FXN) gene. This mutation drives to an increase in the number of GAA trinucleotide repeats within the first intron of the FXN gene on chromosome 9 (Campuzano, et al., 1996). The FXN gene is located on the long (q) arm of chromosome 9 at position 21.11., from base pair 69,035,563 to base pair 69,100,178 on chromosome
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