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Frataxin inactivation leads to steroid deficiency in flies and human ovarian cells

Friedreich ataxia (FA), the most common inherited autosomal-recessive ataxia in Caucasians, is characterized by progressive degeneration of the central and peripheral nervous system, hypertrophic cardiomyopathy and increased incidence of diabetes. FA is caused by a GAA repeat expansion in the first intron of the gene encoding frataxin, an evolutionarily conserved mitochondrial protein, which results in decreased gene expression.

Read More: Frataxin inactivation leads to steroid deficiency in flies and human ovarian cells

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