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Friedreich's ataxia: new insights

12 Sept 2023

Abstract excerpt

Friedreich ataxia (FRDA) is an inherited disease that is typically caused by GAA repeat expansion within the first intron of the FXN gene coding for frataxin. This results in the frataxin deficiency that affects mostly muscle, nervous, and cardiovascular systems with progressive worsening of the symptoms over the years. This review summarizes recent progress that was achieved in understanding of molecular...

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PMID: 37698160
DOI: 10.1042/etls20230017

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