Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome
病例报告:编码 2-酮戊二酸脱氢酶复合物组分的 MRPS36 基因的双等位基因变异导致莱氏综合征
期刊:Frontiers in Pediatrics
影响因子:2
doi:10.3389/fped.2025.1608840
Jiang, Huafang; Xu, Chaolong; Liu, Zhimei; Duan, Ruoyu; Yao, Xingfeng; Fu, Xiaona; Xu, Jiatong; Kang, Xuejing; Yu, Tenghui; Wang, Yuanyuan; Fang, Fang