doi:10.1111/cge.14189engVela-Sebastián, AnaLópez-Gallardo, EsterEmperador, SoniaHernández-Ainsa, CarmenPacheu-Grau, DavidBlanco, IgnacioRos, AndreaPascual-Benito, EsterRabaneda-Lombarte, NeusPresas-Rodríguez, SilviaGarcía-Robles, PilarMontoya, JulioRuiz-Pesini, EduardoToxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutationART-2022-129794Leber hereditary optic neuropathy is a mitochondrial disease mainly due to pathologic mutations in mitochondrial genes related to the respiratory complex I of the oxidative phosphorylation system. Genetic, physiological, and environmental factors modulate the penetrance of these mutations. We report two patients suffering from this disease and harboring a m.15950G > A mutation in the mitochondrial DNA-encoded gene for the threonine transfer RNA. We also provide evidences supporting the pathogenicity of this mutation.2022http://zaguan.unizar.es/record/11969110.1111/cge.14189http://zaguan.unizar.es/record/119691oai:zaguan.unizar.es:119691info:eu-repo/grantAgreement/ES/DGA/B33-20Rinfo:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI21-00229info:eu-repo/grantAgreement/ES/MICINN/PID2020-116970GA-I00info:eu-repo/grantAgreement/ES/MICINN/RYC2020-029544-IClinical genetics 102, 4 (2022), 339-344by-nc-ndhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/info:eu-repo/semantics/openAccess