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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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Detalles Bibliográficos
Autores principales:	Wu, Miaojuan, Gao, Wenqi, Deng, Zhifang, Liu, Zhisheng, Ma, Jiehui, Xiao, Han, Xu, Yu, Sun, Dan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7193542/ https://www.ncbi.nlm.nih.gov/pubmed/32354323 http://dx.doi.org/10.1186/s12883-020-01735-y

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