000097355 001__ 97355 000097355 005__ 20220425105232.0 000097355 0247_ $$2doi$$a10.1111/cge.13701 000097355 0248_ $$2sideral$$a116090 000097355 037__ $$aART-2020-116090 000097355 041__ $$aeng 000097355 100__ $$0(orcid)0000-0002-3217-1424$$aLópez-Gallardo, Ester$$uUniversidad de Zaragoza 000097355 245__ $$aMitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis 000097355 260__ $$c2020 000097355 5060_ $$aAccess copy available to the general public$$fUnrestricted 000097355 5203_ $$aThe 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. 000097355 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B33-17R$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00021$$9info:eu-repo/grantAgreement/ES/ISCIII/FIS/PI17-00166 000097355 540__ $$9info:eu-repo/semantics/openAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/ 000097355 590__ $$a4.438$$b2020 000097355 591__ $$aGENETICS & HEREDITY$$b54 / 175 = 0.309$$c2020$$dQ2$$eT1 000097355 592__ $$a1.542$$b2020 000097355 593__ $$aGenetics (clinical)$$c2020$$dQ1 000097355 593__ $$aGenetics$$c2020$$dQ1 000097355 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion 000097355 700__ $$aCammarata-Scalisi, Francisco 000097355 700__ $$0(orcid)0000-0001-5964-6138$$aEmperador, Sonia$$uUniversidad de Zaragoza 000097355 700__ $$0(orcid)0000-0003-3524-5158$$aHernández-Ainsa, Carmen$$uUniversidad de Zaragoza 000097355 700__ $$aHabbane, Mouna 000097355 700__ $$aVela-Sebastián, Ana 000097355 700__ $$0(orcid)0000-0002-8585-6371$$aBayona-Bafaluy, María Pilar$$uUniversidad de Zaragoza 000097355 700__ $$0(orcid)0000-0003-1770-6299$$aMontoya, Julio$$uUniversidad de Zaragoza 000097355 700__ $$0(orcid)0000-0002-0269-7337$$aRuiz-Pesini, Eduardo$$uUniversidad de Zaragoza 000097355 7102_ $$11003$$2443$$aUniversidad de Zaragoza$$bDpto. Anatom.Histolog.Humanas$$cArea Histología 000097355 7102_ $$11002$$2060$$aUniversidad de Zaragoza$$bDpto. Bioq.Biolog.Mol. Celular$$cÁrea Bioquímica y Biolog.Mole. 000097355 773__ $$g97, 5 (2020), 731-735$$pClin. genet.$$tClinical Genetics$$x0009-9163 000097355 8564_ $$s1014337$$uhttps://zaguan.unizar.es/record/97355/files/texto_completo.pdf$$yPostprint 000097355 8564_ $$s208468$$uhttps://zaguan.unizar.es/record/97355/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint 000097355 909CO $$ooai:zaguan.unizar.es:97355$$particulos$$pdriver 000097355 951__ $$a2022-04-25-10:36:59 000097355 980__ $$aARTICLE