Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report | BMC Medical Genetics | Full Text

Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report | BMC Medical Genetics | Full Text

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 ...

Authors:Dan Sun, Zhimei Liu, Yongchu Liu, Miaojuan Wu, Fang Fang, Xianbo Deng, Zhisheng Liu, Liang Song, Kei Murayama, Chunhua Zhang and Yuanyuan Zhu

Citation:BMC Medical Genetics 2020 21:149

Content type:Case report

 

Published on: 16 July 2020

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