{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T20:39:38Z","timestamp":1773434378493,"version":"3.50.1"},"reference-count":39,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2020,7,26]],"date-time":"2020-07-26T00:00:00Z","timestamp":1595721600000},"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":["PI18\/01374"],"award-info":[{"award-number":["PI18\/01374"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI17\/00048"],"award-info":[{"award-number":["PI17\/00048"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["PI18\/01374"],"award-info":[{"award-number":["PI18\/01374"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["PI17\/00048"],"award-info":[{"award-number":["PI17\/00048"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Consejer\u00eda de Educaci\u00f3n, Juventud y Deporte, Comunidad de Madrid, Spain","award":["Raregenomics B2017\/BMD-3721"],"award-info":[{"award-number":["Raregenomics B2017\/BMD-3721"]}]},{"name":"Consejer\u00eda de Educaci\u00f3n, Juventud y Deporte, Comunidad de Madrid, Spain","award":["P2018\/BAA-4403"],"award-info":[{"award-number":["P2018\/BAA-4403"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Leigh syndrome (LS) usually presents as an early onset mitochondrial encephalopathy characterized by bilateral symmetric lesions in the basal ganglia and cerebral stem. More than 75 genes have been associated with this condition, including genes involved in the biogenesis of mitochondrial complex I (CI). In this study, we used a next-generation sequencing (NGS) panel to identify two novel biallelic variants in the NADH:ubiquinone oxidoreductase subunit A13 (NDUFA13) gene in a patient with isolated CI deficiency in skeletal muscle. Our patient, who represents the second family report with mutations in the CI NDUFA13 subunit, presented with LS lesions in brain magnetic resonance imaging, mild hypertrophic cardiomyopathy, and progressive spastic tetraparesis. This phenotype manifestation is different from that previously described in the first NDUFA13 family, which was predominantly characterized by neurosensorial symptoms. Both in silico pathogenicity predictions and oxidative phosphorylation (OXPHOS) functional findings in patient\u2019s skin fibroblasts (delayed cell growth, isolated CI enzyme defect, decreased basal and maximal oxygen consumption and as well as ATP production, together with markedly diminished levels of the NDUFA13 protein, CI, and respirasomes) suggest that these novel variants in the NDUFA13 gene are the underlying cause of the CI defect, expanding the genetic heterogeneity of LS.<\/jats:p>","DOI":"10.3390\/genes11080855","type":"journal-article","created":{"date-parts":[[2020,7,27]],"date-time":"2020-07-27T04:39:50Z","timestamp":1595824790000},"page":"855","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Novel NDUFA13 Mutations Associated with OXPHOS Deficiency and Leigh Syndrome: A Second Family Report"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4011-362X","authenticated-orcid":false,"given":"Adri\u00e1n","family":"Gonz\u00e1lez-Quintana","sequence":"first","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales y Neurometab\u00f3licas, Instituto de Investigaci\u00f3n Hospital 12 de Octubre (imas12), 28041 Madrid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"In\u00e9s","family":"Garc\u00eda-Consuegra","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales y Neurometab\u00f3licas, Instituto de Investigaci\u00f3n Hospital 12 de Octubre (imas12), 28041 Madrid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amaya","family":"Belanger-Quintana","sequence":"additional","affiliation":[{"name":"Servicio de Pediatr\u00eda, Enfermedades Metab\u00f3licas Hereditarias, Hospital Universitario Ram\u00f3n y Cajal, 28034 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5661-7574","authenticated-orcid":false,"given":"Pablo","family":"Serrano-Lorenzo","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales y Neurometab\u00f3licas, Instituto de Investigaci\u00f3n Hospital 12 de Octubre (imas12), 28041 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandro","family":"Lucia","sequence":"additional","affiliation":[{"name":"Facultad de Ciencias del Deporte, Universidad Europea, 28670 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Bl\u00e1zquez","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales y Neurometab\u00f3licas, Instituto de Investigaci\u00f3n Hospital 12 de Octubre (imas12), 28041 Madrid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Docampo","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales y Neurometab\u00f3licas, Instituto de Investigaci\u00f3n Hospital 12 de Octubre (imas12), 28041 Madrid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Ugalde","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales y Neurometab\u00f3licas, Instituto de Investigaci\u00f3n Hospital 12 de Octubre (imas12), 28041 Madrid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5408-7189","authenticated-orcid":false,"given":"Mar\u00eda","family":"Mor\u00e1n","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales y Neurometab\u00f3licas, Instituto de Investigaci\u00f3n Hospital 12 de Octubre (imas12), 28041 Madrid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joaqu\u00edn","family":"Arenas","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales y Neurometab\u00f3licas, Instituto de Investigaci\u00f3n Hospital 12 de 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