Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report

by Miaojuan Wu, Wenqi Gao, Zhifang Deng, Zhisheng Liu, Jiehui Ma, Han Xiao, Yu Xu, Dan Sun
Published 2020-04-01

Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report

by Dan Sun, Zhimei Liu, Yongchu Liu, Miaojuan Wu, Fang Fang, Xianbo Deng, Zhisheng Liu, Liang Song, Kei Murayama, Chunhua Zhang, Yuanyuan Zhu
Published 2020-07-01