000130498 001__ 130498
000130498 005__ 20240125162931.0
000130498 0247_ $$2doi$$a10.1007/s10048-012-0322-0
000130498 0248_ $$2sideral$$a78204
000130498 037__ $$aART-2012-78204
000130498 041__ $$aeng
000130498 100__ $$aDel,Mar O.
000130498 245__ $$aNew mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: Neonatal, infantile, and childhood onset
000130498 260__ $$c2012
000130498 5203_ $$aThe reported cases showed clinical, biochemical, histopathological, and molecular features lending support to the hypothesis of a pathogenic effect of the detected mutations. Case 1 was a neonatal presentation who showed multiple mitochondrial respiratory chain enzyme defects in muscle associated with a new homoplasmic m.5514A > G transition in the tRNATrp gene. Case 2 was a late infantile presentation who also showed mitochondrial respiratory chain enzyme deficiencies in muscle together with a new m.1643A > G tRNAVal mutation in homoplasmy. Case 3 showed a MERRF phenotype presented in childhood associated with the once previously reported m.15923A > G mutation in heteroplasmy in all the tissues studied.
000130498 540__ $$9info:eu-repo/semantics/openAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000130498 590__ $$a3.575$$b2012
000130498 591__ $$aCLINICAL NEUROLOGY$$b38 / 189 = 0.201$$c2012$$dQ1$$eT1
000130498 591__ $$aGENETICS & HEREDITY$$b51 / 160 = 0.319$$c2012$$dQ2$$eT1
000130498 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000130498 700__ $$0(orcid)0000-0001-5964-6138$$aEmperador,S.
000130498 700__ $$0(orcid)0000-0002-3217-1424$$aLópez-Gallardo,E.$$uUniversidad de Zaragoza
000130498 700__ $$aJou,C.
000130498 700__ $$aBuján,N.
000130498 700__ $$aMontero,R.
000130498 700__ $$aGarcia-Cazorla,A.
000130498 700__ $$aGonzaga,D.
000130498 700__ $$aFerrer,I.
000130498 700__ $$aBriones,P.
000130498 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini,E.$$uUniversidad de Zaragoza
000130498 700__ $$aPineda,M.
000130498 700__ $$aArtuch,R.
000130498 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya,J.$$uUniversidad de Zaragoza
000130498 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole.
000130498 773__ $$g13, 3 (2012), 245-250$$pNeurogenetics$$tNEUROGENETICS$$x1364-6745
000130498 8564_ $$s282916$$uhttps://zaguan.unizar.es/record/130498/files/texto_completo.pdf$$yVersión publicada
000130498 8564_ $$s1950185$$uhttps://zaguan.unizar.es/record/130498/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000130498 909CO $$ooai:zaguan.unizar.es:130498$$particulos$$pdriver
000130498 951__ $$a2024-01-25-15:15:38
000130498 980__ $$aARTICLE