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

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. CASE P...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Sun, Dan, Liu, Zhimei, Liu, Yongchu, Wu, Miaojuan, Fang, Fang, Deng, Xianbo, Liu, Zhisheng, Song, Liang, Murayama, Kei, Zhang, Chunhua, Zhu, Yuanyuan
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7366304/
https://ncbi.nlm.nih.gov/pubmed/32677908
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01083-1
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