Article
Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.
Annals of neurology - 1 Feb 2023
He Jin, Liu Xiao-Xuan, Ma Ming-Ming, Lin Jing-Jing, Fu Jun, Chen Yi-Kun, Xu Guo-Rong, Xu Liu-Qing, Fu Zhi-Fei, Xu Dan, Chen Wen-Feng, Cao Chun-Yan, Shi Yan, Zeng Yi-Heng, Zhang Jing, Chen Xiao-Chun, Zhang Ru-Xu, Wang Ning, Kennerson Marina, Fan Dong-Sheng, Chen Wan-Jin
Abstract excerpt
OBJECTIVE: Despite the increasing number of genes associated with Charcot-Marie-Tooth (CMT) disease, many patients currently still lack appropriate genetic diagnosis for this disease. Autosomal dominant mutations in aminoacyl-tRNA synthetases (ARSs) have been implicated in CMT. Here, we describe causal missense mutations in the gene encoding seryl-tRNA synthetase 1 (SerRS) for 3 families affected with CMT....
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