130498 20240125162931.0 doi 10.1007/s10048-012-0322-0 sideral 78204 ART-2012-78204 eng Del,Mar O. New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: Neonatal, infantile, and childhood onset 2012 The 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. info:eu-repo/semantics/closedAccess All rights reserved http://www.europeana.eu/rights/rr-f/ 3.575 2012 CLINICAL NEUROLOGY 38 / 189 = 0.201 2012 Q1 T1 GENETICS & HEREDITY 51 / 160 = 0.319 2012 Q2 T1 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Emperador,S. (orcid)0000-0001-5964-6138 López-Gallardo,E. Universidad de Zaragoza (orcid)0000-0002-3217-1424 Jou,C. Buján,N. Montero,R. Garcia-Cazorla,A. Gonzaga,D. Ferrer,I. Briones,P. Ruiz-Pesini,E. Universidad de Zaragoza (orcid)0000-0002-0269-7337 Pineda,M. Artuch,R. Montoya,J. Universidad de Zaragoza (orcid)0000-0003-1770-6299 1002 060 Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Área Bioquímica y Biolog.Mole. 13, 3 (2012), 245-250 Neurogenetics NEUROGENETICS 1364-6745 282916 http://zaguan.unizar.es/record/130498/files/texto_completo.pdf Versión publicada 1950185 http://zaguan.unizar.es/record/130498/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:130498 articulos driver 2024-01-25-15:15:38 ARTICLE