Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

BACKGROUND: Glycyl-tRNA synthetase (GARS) is an aminoacyl-tRNA synthetase (ARS) that links the amino acid glycine to its corresponding tRNA prior to protein translation and is one of three bifunctional ARS that are active within both the cytoplasm and mitochondria. Dominant mutations in GARS cause r...

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Detalhes bibliográficos
Main Authors: McMillan, Hugh J, Schwartzentruber, Jeremy, Smith, Amanda, Lee, Suzie, Chakraborty, Pranesh, Bulman, Dennis E, Beaulieu, Chandree L, Majewski, Jacek, Boycott, Kym M, Geraghty, Michael T
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3973608/
https://ncbi.nlm.nih.gov/pubmed/24669931
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-36
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