article_metadata: Michael Nafisinia Lisa G Riley Wendy A Gold Kaustuv Bhattacharya Carolyn R Broderick David R Thorburn Cas Simons John Christodoulou
article_metadata: 10.1371/journal.pone.0178125
article_metadata: PLoS One
article_metadata: 2017 Jun 8;12(6):e0178125.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/28594869/
article_metadata: Glycine-tRNA Ligase / genetics Mitochondria / metabolism Mutation / genetics
article_metadata: Glycine-tRNA Ligase / genetics Mitochondria / metabolism Mutation / genetics Case Reports Adolescent Base Sequence Cells, Cultured Child Computer Simulation Conserved Sequence Electron Transport Female Fibroblasts / metabolism Heterozygote Humans Immunoblotting Liver / pathology Muscle, Skeletal / pathology Phenotype Sequence Analysis, DNA Spectrophotometry Glycine-tRNA Ligase
article_metadata: PMC5464557
article_metadata: 28594869
article_metadata: Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction
article_metadata: 2017