{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T03:13:48Z","timestamp":1760238828931,"version":"build-2065373602"},"reference-count":34,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2020,8,27]],"date-time":"2020-08-27T00:00:00Z","timestamp":1598486400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI17\/00021; PI17\/00109; PI17\/00166"],"award-info":[{"award-number":["PI17\/00021; PI17\/00109; PI17\/00166"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"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"}]},{"name":"Precipita-FECYT crowdfunding program","award":["RR194"],"award-info":[{"award-number":["RR194"]}]},{"name":"Gobierno de Arag\u00f3n and FEDER 2014-2020 &quot;Construyendo Europa desde Arag\u00f3n&quot;","award":["Grupon Consolidados B33"],"award-info":[{"award-number":["Grupon Consolidados B33"]}]},{"name":"Asociaci\u00f3n de Enfermos de Patolog\u00eda MItocondrial","award":["(AEPMI)"],"award-info":[{"award-number":["(AEPMI)"]}]},{"DOI":"10.13039\/501100002809","name":"Generalitat de Catalunya","doi-asserted-by":"publisher","award":["CERCA Programme"],"award-info":[{"award-number":["CERCA Programme"]}],"id":[{"id":"10.13039\/501100002809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Leigh syndrome (LS) is a serious genetic disease that can be caused by mutations in dozens of different genes. Methods: Clinical study of a deafness pedigree in which some members developed LS. Cellular, biochemical and molecular genetic analyses of patients\u2019 tissues and cybrid cell lines were performed. Results: mitochondrial DNA (mtDNA) m.1555A&gt;G\/MT-RNR1 and m.9541T&gt;C\/MT-CO3 mutations were found. The first one is a well-known pathologic mutation. However, the second one does not appear to contribute to the high hearing loss penetrance and LS phenotype observed in this family. Conclusion: The m.1555A&gt;G pathological mutation, accompanied with an unknown nuclear DNA (nDNA) factor, could be the cause of the phenotypic manifestations in this pedigree.<\/jats:p>","DOI":"10.3390\/genes11091007","type":"journal-article","created":{"date-parts":[[2020,8,27]],"date-time":"2020-08-27T08:05:18Z","timestamp":1598515518000},"page":"1007","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Leigh Syndrome in a Pedigree Harboring the m.1555A&gt;G Mutation in the Mitochondrial 12S rRNA"],"prefix":"10.3390","volume":"11","author":[{"given":"Mouna","family":"Habbane","sequence":"first","affiliation":[{"name":"Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular y Celular, Universidad de Zaragoza, 50013 Zaragoza, Spain"},{"name":"Laboratoire Biologie et Sant\u00e9, Facult\u00e9 des Sciences Ben M\u2019Sik, Universit\u00e9 Hassan II, 20670 Casablanca, Morocco"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Llobet","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular y Celular, Universidad de Zaragoza, 50013 Zaragoza, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. Pilar","family":"Bayona-Bafaluy","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular y Celular, Universidad de Zaragoza, 50013 Zaragoza, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria (IIS) de Arag\u00f3n, 50009 Zaragoza, Spain"},{"name":"Centro de Investigaciones Biom\u00e9dicas en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7156-5960","authenticated-orcid":false,"given":"Jos\u00e9 E.","family":"B\u00e1rcena","sequence":"additional","affiliation":[{"name":"Servicio de Neurolog\u00eda, Hospital Universitario Cruces, 48903 Baracaldo, Vizcaya, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leticia","family":"Ceberio","sequence":"additional","affiliation":[{"name":"Servicio de Medicina Interna, Hospital Universitario Cruces, 48903 Baracaldo, Vizcaya, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Covadonga","family":"G\u00f3mez-D\u00edaz","sequence":"additional","affiliation":[{"name":"Servicio de Otorrinolaringolog\u00eda, Hospital Universitario Miguel Servet, 50009 Zaragoza, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4746-1034","authenticated-orcid":false,"given":"Laura","family":"Gort","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Biom\u00e9dicas en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"},{"name":"Errors Cong\u00e8nits del Metabolisme, Servicio de Bioqu\u00edmica i Gen\u00e8tica Molecular, CDB, Hospital Cl\u00ednic, IDIBAPS, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael","family":"Artuch","sequence":"additional","affiliation":[{"name":"Centro de Investigaciones Biom\u00e9dicas en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"},{"name":"Servicio de Bioqu\u00edmica Cl\u00ednica, Institut de Recerca Sant Joan de D\u00e9u, 08950 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1770-6299","authenticated-orcid":false,"given":"Julio","family":"Montoya","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular y Celular, Universidad de Zaragoza, 50013 Zaragoza, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria (IIS) de Arag\u00f3n, 50009 Zaragoza, Spain"},{"name":"Centro de Investigaciones Biom\u00e9dicas en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0269-7337","authenticated-orcid":false,"given":"Eduardo","family":"Ruiz-Pesini","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular y Celular, Universidad de Zaragoza, 50013 Zaragoza, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria (IIS) de Arag\u00f3n, 50009 Zaragoza, Spain"},{"name":"Centro de Investigaciones Biom\u00e9dicas en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"},{"name":"Fundaci\u00f3n Araid, 50018 Zaragoza, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,8,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1136\/jnnp-2012-304426","article-title":"A guide to diagnosis and treatment of Leigh syndrome","volume":"85","author":"Baertling","year":"2013","journal-title":"J. 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