000069455 001__ 69455
000069455 005__ 20200217133050.0
000069455 0247_ $$2doi$$a10.3389/fnins.2018.00061
000069455 0248_ $$2sideral$$a104581
000069455 037__ $$aART-2018-104581
000069455 041__ $$aeng
000069455 100__ $$0(orcid)0000-0001-5964-6138$$aEmperador, S.$$uUniversidad de Zaragoza
000069455 245__ $$aThe decrease in mitochondrial DNA mutation load parallels visual recovery in a Leber hereditary optic neuropathy patient
000069455 260__ $$c2018
000069455 5060_ $$aAccess copy available to the general public$$fUnrestricted
000069455 5203_ $$aThe onset of Leber hereditary optic neuropathy is relatively rare in childhood and, interestingly, the rate of spontaneous visual recovery is very high in this group of patients. Here, we report a child harboring a rare pathological mitochondrial DNA mutation, present in heteroplasmy, associated with the disease. A patient follow-up showed a rapid recovery of the vision accompanied by a decrease of the percentage of mutated mtDNA. A retrospective study on the age of recovery of all childhood-onset Leber hereditary optic neuropathy patients reported in the literature suggested that this process was probably related with pubertal changes.
000069455 536__ $$9info:eu-repo/grantAgreement/ES/MICINN-ISCIII-ERDF/RETICS-RD12-0005$$9info:eu-repo/grantAgreement/ES/ISCIII/PI17-00021$$9info:eu-repo/grantAgreement/ES/FIS/PI14-00070$$9info:eu-repo/grantAgreement/ES/FIS/PI14-00028$$9info:eu-repo/grantAgreement/ES/FIS/PI14-00005$$9info:eu-repo/grantAgreement/ES/DGA/B33
000069455 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000069455 590__ $$a3.648$$b2018
000069455 591__ $$aNEUROSCIENCES$$b91 / 266 = 0.342$$c2018$$dQ2$$eT2
000069455 592__ $$a1.665$$b2018
000069455 593__ $$aNeuroscience (miscellaneous)$$c2018$$dQ1
000069455 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000069455 700__ $$aVidal, M.
000069455 700__ $$0(orcid)0000-0003-3524-5158$$aHernández-Ainsa, C.$$uUniversidad de Zaragoza
000069455 700__ $$aRuiz-Ruiz, C.
000069455 700__ $$aWoods, D.
000069455 700__ $$aMorales-Becerra, A.
000069455 700__ $$aArruga, J.
000069455 700__ $$aArtuch, R.
000069455 700__ $$0(orcid)0000-0002-3217-1424$$aLópez-Gallardo, E.$$uUniversidad de Zaragoza
000069455 700__ $$0(orcid)0000-0002-8585-6371$$aBayona-Bafaluy, M.P.$$uUniversidad de Zaragoza
000069455 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, J.$$uUniversidad de Zaragoza
000069455 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, E.$$uUniversidad de Zaragoza
000069455 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000069455 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000069455 773__ $$g12, FEB (2018), 610 [8 pp]$$pFront. neurosci.$$tFrontiers in neuroscience$$x1662-4548
000069455 8564_ $$s255212$$uhttps://zaguan.unizar.es/record/69455/files/texto_completo.pdf$$yVersión publicada
000069455 8564_ $$s11420$$uhttps://zaguan.unizar.es/record/69455/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000069455 909CO $$ooai:zaguan.unizar.es:69455$$particulos$$pdriver
000069455 951__ $$a2020-02-17-12:42:29
000069455 980__ $$aARTICLE