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

Short-chain enoyl-CoA hydratase deficiency (ECHS1D), also known as ECHS1 deficiency, is a rare inborn metabolic disorder with clinical presentations characterized by Leigh syndrome (LS). Thirty-four different ...

Source: BMC Medical Genetics - July 16, 2020 Category: Genetics & Stem Cells Authors: Dan Sun, Zhimei Liu, Yongchu Liu, Miaojuan Wu, Fang Fang, Xianbo Deng, Zhisheng Liu, Liang Song, Kei Murayama, Chunhua Zhang and Yuanyuan Zhu Tags: Case report Source Type: research