{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T17:16:14Z","timestamp":1792602974868,"version":"4.5.0"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,1,9]],"date-time":"2020-01-09T00:00:00Z","timestamp":1578528000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008061","name":"Fundaci\u00f3n Mutua Madrile\u00f1a","doi-asserted-by":"publisher","award":["MMA17\/01"],"award-info":[{"award-number":["MMA17\/01"]}],"id":[{"id":"10.13039\/100008061","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    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&gt;C, in the tRNA\n                    <jats:sup>Lys<\/jats:sup>\n                    \u2010coding gene and, using a cybrid approach, confirmed its pathogenicity. A meta\u2010analysis 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.\n                  <\/jats:p>","DOI":"10.1111\/cge.13701","type":"journal-article","created":{"date-parts":[[2020,1,8]],"date-time":"2020-01-08T00:40:27Z","timestamp":1578444027000},"page":"731-735","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis"],"prefix":"10.1111","volume":"97","author":[{"given":"Ester","family":"L\u00f3pez\u2010Gallardo","sequence":"first","affiliation":[{"name":"Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular y Celular Universidad de Zaragoza  Zaragoza 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