{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:11Z","timestamp":1772160071645,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,7,18]],"date-time":"2022-07-18T00:00:00Z","timestamp":1658102400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Leber hereditary optic neuropathy is a mitochondrial disease mainly due to pathologic mutations in mitochondrial genes related to the respiratory complex I of the oxidative phosphorylation system. Genetic, physiological, and environmental factors modulate the penetrance of these mutations. We report two patients suffering from this disease and harboring a m.15950G\u2009&gt;\u2009A mutation in the mitochondrial DNA\u2010encoded gene for the threonine transfer RNA. We also provide evidences supporting the pathogenicity of this mutation.<\/jats:p>","DOI":"10.1111\/cge.14189","type":"journal-article","created":{"date-parts":[[2022,7,9]],"date-time":"2022-07-09T03:11:50Z","timestamp":1657336310000},"page":"339-344","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation"],"prefix":"10.1111","volume":"102","author":[{"given":"Ana","family":"Vela\u2010Sebasti\u00e1n","sequence":"first","affiliation":[{"name":"Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular y Celular Universidad de Zaragoza  Zaragoza Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ester","family":"L\u00f3pez\u2010Gallardo","sequence":"additional","affiliation":[{"name":"Departamento de Bioqu\u00edmica, Biolog\u00eda Molecular y Celular Universidad de Zaragoza  Zaragoza 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