Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency

por Zhou, Xiyue, Lou, Xiaoting, Zhou, Yuwei, Xie, Yaojun, Han, Xinyu, Dong, Qiyu, Ying, Xiaojie, Laurentinah, Mahlatsi Refiloe, Zhang, Luyi, Chen, Zhehui, Li, Dongxiao, Fang, Hezhi, Lyu, Jianxin, Yang, Yanling, Wang, Ya
Publicado 2022