000130586 001__ 130586
000130586 005__ 20240126184245.0
000130586 0248_ $$2sideral$$a123607
000130586 037__ $$aART-2019-123607
000130586 041__ $$aeng
000130586 100__ $$aJou, C.
000130586 245__ $$aMuscle involvement in a large cohort of pediatric patients with genetic diagnosis of mitochondrial disease
000130586 260__ $$c2019
000130586 5060_ $$aAccess copy available to the general public$$fUnrestricted
000130586 5203_ $$aP06.32C
Mitochondrial 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.
000130586 536__ $$9info:eu-repo/grantAgreement/ES/ISCIII/PI16-01048$$9info:eu-repo/grantAgreement/ES/ISCIII/PI17-00021$$9info:eu-repo/grantAgreement/ES/ISCIII/PI17-0019$$9info:eu-repo/grantAgreement/ES/ISCIII-FIS/PI15-01082
000130586 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000130586 590__ $$a3.303$$b2019
000130586 591__ $$aMEDICINE, GENERAL & INTERNAL$$b36 / 165 = 0.218$$c2019$$dQ1$$eT1
000130586 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000130586 700__ $$aOrtigoza-Escobar, J.D.
000130586 700__ $$aO'Callaghan, M.M.
000130586 700__ $$aNascimento, A.
000130586 700__ $$aDarling, A.
000130586 700__ $$aPias-Peleteiro, L.
000130586 700__ $$aPerez-Duenas, B.
000130586 700__ $$aPineda, M.
000130586 700__ $$aCodina, A.
000130586 700__ $$aArjona, C.
000130586 700__ $$aArmstrong, J.
000130586 700__ $$aPalau, F.
000130586 700__ $$aRibes, A.
000130586 700__ $$aGort, L.
000130586 700__ $$aTort, F.
000130586 700__ $$aNavas, P.
000130586 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, E.$$uUniversidad de Zaragoza
000130586 700__ $$0(orcid)0000-0001-5964-6138$$aEmperador, S.$$uUniversidad de Zaragoza
000130586 700__ $$0(orcid)0000-0002-3217-1424$$aLopez-Gallardo, E.$$uUniversidad de Zaragoza
000130586 700__ $$0(orcid)0000-0002-8585-6371$$aBayona-Bafaluy, P.$$uUniversidad de Zaragoza
000130586 700__ $$aMontero, R.
000130586 700__ $$aJimenez-Mallebrera, C.
000130586 700__ $$aGarcia-Cazorla, A.
000130586 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, J.$$uUniversidad de Zaragoza
000130586 700__ $$aYubero, D.
000130586 700__ $$aArtuch, R.
000130586 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología
000130586 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000130586 773__ $$g8, 68 (2019), e8010068 [12 pp.]$$pJ. clin.med.$$tJournal of Clinical Medicine$$x2077-0383
000130586 85641 $$uhttps://www.nature.com/articles/s41431-019-0494-2.pdf$$zTexto completo de la revista
000130586 8564_ $$s1178895$$uhttps://zaguan.unizar.es/record/130586/files/texto_completo.pdf$$yVersión publicada
000130586 8564_ $$s2605212$$uhttps://zaguan.unizar.es/record/130586/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000130586 909CO $$ooai:zaguan.unizar.es:130586$$particulos$$pdriver
000130586 951__ $$a2024-01-26-18:12:09
000130586 980__ $$aARTICLE