97355 20220425105232.0 doi 10.1111/cge.13701 sideral 116090 ART-2020-116090 eng López-Gallardo, Ester Universidad de Zaragoza (orcid)0000-0002-3217-1424 Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis 2020 Access copy available to the general public Unrestricted The frequency of dermatological manifestations in diseases due to mitochondrial DNA mutations is not well known, although multiple symmetric lipomatosis has been repeatedly associated to mitochondrial DNA mutations. Here, we present a patient suffering from multiple symmetric lipomatosis and other skin signs. We found a new mitochondrial DNA mutation, m.8357T>C, in the tRNALys-coding gene and, using a cybrid approach, confirmed its pathogenicity. A meta-analysis of the dermatological signs of the patient shows that they are not common in patients with confirmed mitochondrial DNA mutations and suggests that, in these cases, lipomatosis is not related to the oxidative phosphorylation dysfunction, but to an alteration of an additional function associated to particular mitochondrial tRNAs. info:eu-repo/grantAgreement/ES/DGA/B33-17R info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021 info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00166 info:eu-repo/semantics/openAccess All rights reserved http://www.europeana.eu/rights/rr-f/ 4.438 2020 GENETICS & HEREDITY 54 / 175 = 0.309 2020 Q2 T1 1.542 2020 Genetics (clinical) 2020 Q1 Genetics 2020 Q1 info:eu-repo/semantics/article info:eu-repo/semantics/acceptedVersion Cammarata-Scalisi, Francisco Emperador, Sonia Universidad de Zaragoza (orcid)0000-0001-5964-6138 Hernández-Ainsa, Carmen Universidad de Zaragoza (orcid)0000-0003-3524-5158 Habbane, Mouna Vela-Sebastián, Ana Bayona-Bafaluy, María Pilar Universidad de Zaragoza (orcid)0000-0002-8585-6371 Montoya, Julio Universidad de Zaragoza (orcid)0000-0003-1770-6299 Ruiz-Pesini, Eduardo Universidad de Zaragoza (orcid)0000-0002-0269-7337 1003 443 Universidad de Zaragoza Dpto. Anatom.Histolog.Humanas Area Histología 1002 060 Universidad de Zaragoza Dpto. Bioq.Biolog.Mol. Celular Área Bioquímica y Biolog.Mole. 97, 5 (2020), 731-735 Clin. genet. Clinical Genetics 0009-9163 1014337 http://zaguan.unizar.es/record/97355/files/texto_completo.pdf Postprint 208468 http://zaguan.unizar.es/record/97355/files/texto_completo.jpg?subformat=icon icon Postprint oai:zaguan.unizar.es:97355 articulos driver 2022-04-25-10:36:59 ARTICLE