2026-04-17T01:37:30Zhttps://recercat.cat/oai/request

oai:recercat.cat:2072/4402642026-03-13T06:27:19Zcom_2072_98col_2072_378192

00925njm 22002777a 4500 dc Carreño Gago, Lidia author Blázquez-Bermejo, Cora author Diaz-Manera, Jordi author Cámara, Yolanda author Gallardo, Eduard author Martí, R. author Torres-Torronteras, J. author García Arumí, Elena author Universitat Autònoma de Barcelona author 2019 Altres ajuts: This work was supported by the Fondo de Investigaciones Sanitarias and the Generalitat de Catalunya (a grant from the URDCat project PERIS to EG-A and RM). Mitochondrial DNA (mtDNA) depletion and deletion syndrome encompasses a group of disorders caused by mutations in genes involved in mtDNA replication and maintenance. The clinical phenotype ranges from fatal infantile hepatocerebral forms to mild adult onset progressive external ophthalmoplegia (PEO). We report the case of a patient with PEO and multiple mtDNA deletions, with two new homozygous mutations in RNASEH1. The first mutation (c.487T. Identification and characterization of new RNASEH1 mutations associated with PEO syndrome and multiple mitochondrial DNA deletions