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

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

Abstract 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...

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Bibliographic Details
Main Authors: Miaojuan Wu, Wenqi Gao, Zhifang Deng, Zhisheng Liu, Jiehui Ma, Han Xiao, Yu Xu, Dan Sun
Format: Article
Language:English
Published: BMC 2020-04-01
Series:BMC Neurology
Subjects:
Mitochondrial encephalopathy
ECHS1
Variants
Online Access:http://link.springer.com/article/10.1186/s12883-020-01735-y

Internet

http://link.springer.com/article/10.1186/s12883-020-01735-y

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