Mutations in ELAC2 are coupled to many clinically relevant mitochondrial diseases, with patient symptoms ranging from pediatric cardiomyopathy to adult intellectual disability depending on their functional severity (Akawi et al, 2016; Cafournet et al, 2023; Paucar et al, 2018; Saoura et al, 2019). The gene discussed is ELAC2; the disease is mitochondrial disease.