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

BACKGROUND: Short-chain enoyl-CoA hydratase (ECHS1) is a multifunctional mitochondrial matrix enzyme involved in the second step of mitochondrial fatty acid β-oxidation. Mitochondrial diseases resulting from ECHS1 mutations are often characterised by encephalopathy, deafness, epilepsy, optic atrophy...

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Vydáno v:BMC Neurol
Hlavní autoři: Wu, Miaojuan, Gao, Wenqi, Deng, Zhifang, Liu, Zhisheng, Ma, Jiehui, Xiao, Han, Xu, Yu, Sun, Dan
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7193542/
https://ncbi.nlm.nih.gov/pubmed/32354323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-020-01735-y
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