doi:10.1007/s10048-012-0322-0engDel,Mar O.Emperador,S.López-Gallardo,E.Jou,C.Buján,N.Montero,R.Garcia-Cazorla,A.Gonzaga,D.Ferrer,I.Briones,P.Ruiz-Pesini,E.Pineda,M.Artuch,R.Montoya,J.New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: Neonatal, infantile, and childhood onsetART-2012-78204The 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.2012http://zaguan.unizar.es/record/13049810.1007/s10048-012-0322-0http://zaguan.unizar.es/record/130498oai:zaguan.unizar.es:130498NEUROGENETICS 13, 3 (2012), 245-250All rights reservedhttp://www.europeana.eu/rights/rr-f/info:eu-repo/semantics/closedAccess