Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic...
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease
About this item
Full title
Author / Creator
Publisher
Hoboken, USA: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
Hoboken, USA: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Disorders of mitochondrial function are a collectively common group of genetic diseases in which deficits in core mitochondrial translation machinery, including aminoacyl tRNA synthetases, are key players. Biallelic variants in the CARS2 gene (NM_024537.4), which encodes the mitochondrial aminoacyl‐tRNA synthetase for cysteine (CARS2, mt‐aaRScys; M...
Alternative Titles
Full title
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_4f5342b87e7f4e589989796569d7e800
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_4f5342b87e7f4e589989796569d7e800
Other Identifiers
ISSN
2192-8312,2192-8304
E-ISSN
2192-8312
DOI
10.1002/jmd2.12360
