摘要
Friedreich's ataxia(FRDA)is the most common neurodegenerative disease caused by an autosomal recessive singlegene mutation,affecting 2-4 per 100,000 Caucasians[1].The causative gene is frataxin(FXN),located on chromosome 9q13,and it encodes a 210-amino-acid mitochondrial matrix protein.
基金
supported by the National Natural Science Foundation of China(31871201 and 31371060).