Besides adolescent‐onset or infant‐onset neuromuscular disorders, GARS1 mutations had been reported to be associated with other diseases such as mitochondrial disease, autism spectrum disorder, and a multisystem developmental syndrome that includes severe growth retardation (Mcmillan et al., 2014; Oprescu et al., 2017; Yuen et al., 2015). This evidence concerns the gene GARS1 and mitochondrial disease.