Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitoch...
Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report
About this item
Full title
Author / Creator
Wu, Miaojuan , Gao, Wenqi , Deng, Zhifang , Liu, Zhisheng , Ma, Jiehui , Xiao, Han , Xu, Yu and Sun, Dan
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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, cardiomyopathy, dystonia, and lactic acidosis. In this study...
Alternative Titles
Full title
Two novel ECHS1 variants, affecting splicing and reducing enzyme activity, is associated with mitochondrial encephalopathy in infant: a case report
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_890d66fe43e3409aab4c600137d1f336
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_890d66fe43e3409aab4c600137d1f336
Other Identifiers
ISSN
1471-2377
E-ISSN
1471-2377
DOI
10.1186/s12883-020-01735-y
