Neonatal encephalocardiomyopathy caused by mutations in VARS2
Neonatal encephalocardiomyopathy caused by mutations in VARS2
About this item
Full title
Neonatal encephalocardiomyopathy caused by mutations in VARS2
Author / Creator
Publisher
New York: Springer US
Journal title
Metabolic brain disease, 2017-02, Vol.32 (1), p.267-270
Language
English
Formats
Publication information
Publisher
New York: Springer US
Subjects
More information
Scope and Contents
Contents
VARS2
encodes a mitochondrial aminoacyl-tRNA-synthetase. Mutations in
VARS2
have recently been identified as a cause of mitochondrial encephalomyopathy in three individuals. However, clinical information remained scarce. Exome sequencing lead us to identify compound heterozygous pathogenic
VARS2
variants in a boy presenting with seve...
Alternative Titles
Full title
Neonatal encephalocardiomyopathy caused by mutations in VARS2
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1857753266
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1857753266
Other Identifiers
ISSN
0885-7490
E-ISSN
1573-7365
DOI
10.1007/s11011-016-9890-2
