000161672 001__ 161672
000161672 005__ 20251017144632.0
000161672 0247_ $$2doi$$a10.1016/j.jfo.2025.104494
000161672 0248_ $$2sideral$$a144187
000161672 037__ $$aART-2025-144187
000161672 041__ $$aeng
000161672 100__ $$aGonzález Martín-Moro, J.
000161672 245__ $$aLeber hereditary optic neuropathy in a family with two primary pathogenic variants: Report of a pedigree and review of the literature
000161672 260__ $$c2025
000161672 5060_ $$aAccess copy available to the general public$$fUnrestricted
000161672 5203_ $$aThree primary mtDNA point pathogenic variants: m.11778G>A, m.3460G>A and m.14484T>C are responsible for 90% of Leber hereditary optic neuropathy (LHON) cases [1]. The first patient harboring two primary pathogenic variants was reported in 1995 [2]. The combination of two primary pathogenic variants in the same subject is uncommon, and the goal of this paper is to describe three members of the same Spanish family that harbor two primary pathogenic variants...
000161672 540__ $$9info:eu-repo/semantics/embargoedAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000161672 655_4 $$ainfo:eu-repo/semantics/other$$vinfo:eu-repo/semantics/acceptedVersion
000161672 700__ $$aMiralles Pechuan, V.
000161672 700__ $$aFuentes Vega, I.
000161672 700__ $$aDomingo Gordo, B.
000161672 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, J.$$uUniversidad de Zaragoza
000161672 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000161672 773__ $$g48, 5 (2025), 104494 [6 pp.]$$pJ. fr. ophtalmol.$$tJournal français d'ophtalmologie$$x0181-5512
000161672 8564_ $$s145077$$uhttps://zaguan.unizar.es/record/161672/files/texto_completo.pdf$$yPostprint$$zinfo:eu-repo/date/embargoEnd/2026-03-19
000161672 8564_ $$s1469003$$uhttps://zaguan.unizar.es/record/161672/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint$$zinfo:eu-repo/date/embargoEnd/2026-03-19
000161672 909CO $$ooai:zaguan.unizar.es:161672$$particulos$$pdriver
000161672 951__ $$a2025-10-17-14:27:10
000161672 980__ $$aARTICLE