Michael Nafisinia Lisa G Riley Wendy A Gold Kaustuv Bhattacharya Carolyn R Broderick David R Thorburn Cas Simons John Christodoulou
10.1371/journal.pone.0178125
PLoS One
2017 Jun 8;12(6):e0178125.
CC BY
https://pubmed.ncbi.nlm.nih.gov/28594869/
Glycine-tRNA Ligase / genetics Mitochondria / metabolism Mutation / genetics
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
PMC5464557
28594869
Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction
2017