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

• Main Authors: Dan Sun (Author), Zhimei Liu (Author), Yongchu Liu (Author), Miaojuan Wu (Author), Fang Fang (Author), Xianbo Deng (Author), Zhisheng Liu (Author), Liang Song (Author), Kei Murayama (Author), Chunhua Zhang (Author), Yuanyuan Zhu (Author)
• Format: Book
• Published: BMC, 2020-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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 pathogenic mutations have been identified from over 40 patients to date...