{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:29:35Z","timestamp":1777937375696,"version":"3.51.4"},"reference-count":8,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2017,1,25]],"date-time":"2017-01-25T00:00:00Z","timestamp":1485302400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2017,9]]},"abstract":"<jats:p>Whole-exome sequencing was used to identify the disease gene(s) in a Spanish girl with failure to thrive, muscle weakness, mild facial weakness, elevated creatine kinase, deficiency of mitochondrial complex III and depletion of mtDNA. With whole-exome sequencing data, it was possible to get the whole mtDNA sequencing and discard any pathogenic variant in this genome. The analysis of whole exome uncovered a homozygous pathogenic mutation in thymidine kinase 2 gene ( TK2; NM_004614.4:c.323\u2009C&gt;T, p.T108M). TK2 mutations have been identified mainly in patients with the myopathic form of mtDNA depletion syndromes. This patient presents an atypical TK2-related myopathic form of mtDNA depletion syndromes, because despite having a very low content of mtDNA (&lt;20%), she presents a slower and less severe evolution of the disease. In conclusion, our data confirm the role of TK2 gene in mtDNA depletion syndromes and expanded the phenotypic spectrum.<\/jats:p>","DOI":"10.1177\/1093526616686439","type":"journal-article","created":{"date-parts":[[2017,8,16]],"date-time":"2017-08-16T11:34:51Z","timestamp":1502883291000},"page":"416-420","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":10,"title":["Myopathic mtDNA Depletion Syndrome Due to Mutation in\n                    <i>TK2<\/i>\n                    Gene"],"prefix":"10.1177","volume":"20","author":[{"given":"Elena","family":"Mart\u00edn-Hern\u00e1ndez","sequence":"first","affiliation":[{"name":"Unidad Pedi\u00e1trica de Enfermedades Raras, Metab\u00f3licas-Hereditarias y Mitocondriales, Departamento de Pediatr\u00eda, Hospital Universitario 12 de Octubre, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Teresa","family":"Garc\u00eda-Silva","sequence":"additional","affiliation":[{"name":"Unidad Pedi\u00e1trica de Enfermedades Raras, Metab\u00f3licas-Hereditarias y Mitocondriales, Departamento de Pediatr\u00eda, Hospital Universitario 12 de Octubre, Madrid, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pilar","family":"Quijada-Fraile","sequence":"additional","affiliation":[{"name":"Unidad Pedi\u00e1trica de Enfermedades Raras, Metab\u00f3licas-Hereditarias y Mitocondriales, Departamento de Pediatr\u00eda, Hospital Universitario 12 de Octubre, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Elena","family":"Rodr\u00edguez-Garc\u00eda","sequence":"additional","affiliation":[{"name":"Laboratorio de Enfermedades Mitocondriales, Instituto de Investigaci\u00f3n, Hospital Universitario 12 de Octubre (i\u2009+\u200912), Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry","family":"Rivera","sequence":"additional","affiliation":[{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Madrid, Spain"},{"name":"Laboratorio de Enfermedades Mitocondriales, Instituto de Investigaci\u00f3n, Hospital Universitario 12 de Octubre (i\u2009+\u200912), Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aurelio","family":"Hern\u00e1ndez-La\u00edn","sequence":"additional","affiliation":[{"name":"Servicio de Anatom\u00eda Patol\u00f3gica (Neuropatolog\u00eda), Hospital Universitario 12 de Octubre, Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Coca-Robinot","sequence":"additional","affiliation":[{"name":"Servicio de Radiolog\u00eda Pedi\u00e1trica, Hospital Universitario 12 de Octubre, Madrid, 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