000078230 001__ 78230
000078230 005__ 20230914083236.0
000078230 0247_ $$2doi$$a10.3390/jcm8010068
000078230 0248_ $$2sideral$$a110776
000078230 037__ $$aART-2019-110776
000078230 041__ $$aeng
000078230 100__ $$aJou, C.
000078230 245__ $$aMuscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease
000078230 260__ $$c2019
000078230 5060_ $$aAccess copy available to the general public$$fUnrestricted
000078230 5203_ $$aMitochondrial diseases (MD) are a group of genetic and acquired disorders which present significant diagnostic challenges. Here we report the disease characteristics of a large cohort of pediatric MD patients (n = 95) with a definitive genetic diagnosis, giving special emphasis on clinical muscle involvement, biochemical and histopathological features. Of the whole cohort, 51 patients harbored mutations in nuclear DNA (nDNA) genes and 44 patients had mutations in mitochondrial DNA (mtDNA) genes. The nDNA patients were more likely to have a reduction in muscle fiber succinate dehydrogenase (SDH) stains and in SDH-positive blood vessels, while a higher frequency of mtDNA patients had ragged red (RRF) and blue fibers. The presence of positive histopathological features was associated with ophthalmoplegia, myopathic facies, weakness and exercise intolerance. In 17 patients younger than two years of age, RRF and blue fibers were observed only in one case, six cases presented cytochrome c oxidase (COX) reduction/COX-fibers, SDH reduction was observed in five and all except one presented SDH-positive blood vessels. In conclusion, muscle involvement was a frequent finding in our series of MD patients, especially in those harboring mutations in mtDNA genes.
000078230 536__ $$9info:eu-repo/grantAgreement/ES/ISCIII-FIS/PI17-00109$$9info:eu-repo/grantAgreement/ES/ISCIII-FIS/PI15-01082$$9info:eu-repo/grantAgreement/ES/ISCIII/PI17-00021$$9info:eu-repo/grantAgreement/ES/ISCIII-FIS/PI17-01286$$9info:eu-repo/grantAgreement/ES/ISCIII-FIS/PI10-01048
000078230 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000078230 590__ $$a3.303$$b2019
000078230 591__ $$aMEDICINE, GENERAL & INTERNAL$$b36 / 165 = 0.218$$c2019$$dQ1$$eT1
000078230 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000078230 700__ $$aOrtigoza-Escobar, J.D.
000078230 700__ $$aOcallaghan, M.M.
000078230 700__ $$aNascimento, A.
000078230 700__ $$aDarling, A.
000078230 700__ $$aPias-Peleteiro, L.
000078230 700__ $$aPerez-Duenas, B.
000078230 700__ $$aPineda, M.
000078230 700__ $$aCodina, A.
000078230 700__ $$aArjona, C.
000078230 700__ $$aArmstrong, J.
000078230 700__ $$aPalau, F.
000078230 700__ $$aRibes, A.
000078230 700__ $$aGort, L.
000078230 700__ $$aTort, F.
000078230 700__ $$aNavas, P.
000078230 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, E.$$uUniversidad de Zaragoza
000078230 700__ $$0(orcid)0000-0001-5964-6138$$aEmperador, S.$$uUniversidad de Zaragoza
000078230 700__ $$0(orcid)0000-0002-3217-1424$$aLopez-Gallardo, E.$$uUniversidad de Zaragoza
000078230 700__ $$0(orcid)0000-0002-8585-6371$$aBayona-Bafaluy, P.$$uUniversidad de Zaragoza
000078230 700__ $$aMontero, R.
000078230 700__ $$aJimenez-Mallebrera, C.
000078230 700__ $$aGarcia-Cazorla, A.
000078230 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, J.$$uUniversidad de Zaragoza
000078230 700__ $$aYubero, D.
000078230 700__ $$aArtuch, R.
000078230 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000078230 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000078230 773__ $$g8, 1 (2019), 68 [12 pp]$$pJ. clin.med.$$tJournal of Clinical Medicine$$x2077-0383
000078230 8564_ $$s548758$$uhttps://zaguan.unizar.es/record/78230/files/texto_completo.pdf$$yVersión publicada
000078230 8564_ $$s110200$$uhttps://zaguan.unizar.es/record/78230/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000078230 909CO $$ooai:zaguan.unizar.es:78230$$particulos$$pdriver
000078230 951__ $$a2023-09-13-10:46:12
000078230 980__ $$aARTICLE