Belle K, Kreymerman A, Young JL, et al. Genetic analysis and multimodal imaging confirm m.12148Â TÂ >Â C mitochondrial variant pathogenicity leading to multisystem dysfunction. Molecular genetics and metabolism. 2025;144(3):109049. doi:10.1016/j.ymgme.2025.109049
Walker MA, Li S, Livak KJ, Karaa A, Wu CJ, Mootha VK. T cell activation contributes to purifying selection against the MELAS-associated m.3243A>G pathogenic variant in blood. Journal of inherited metabolic disease. 2024. doi:10.1002/jimd.12726