{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T19:52:39Z","timestamp":1785268359538,"version":"3.55.0"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T00:00:00Z","timestamp":1744156800000},"content-version":"vor","delay-in-days":12,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,3,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Mutations in the NDUFV1 gene are associated with mitochondrial complex I deficiency and have been linked to various clinical conditions such as Leigh syndrome, severe infantile lactic acidosis, newborn cardiomyopathy, progressive leukoencephalopathy, and other encephalomyopathies. Genetic alterations revealed mitochondrial complex 1 deficiency, nuclear type 4 |AR: two compound heterozygous missense mutations in the NDUFV1 gene, c.640G\u2009&amp;lt;\u2009A (p.E214K) chr11:67377981 (Exon 1) and c.248C\u2009&amp;lt;\u2009T (p.S83L) chr11:67376115 (Exon 3) gene. Our case identifies a previously unknown pathogenic effect of the variant \u2018c.248C\u2009&amp;gt;\u2009T\u2019 in the NDUFV1 gene, observed in a 4-year-old boy with left-sided facial paralysis and balance impairment. While this discovery is significant, further exploration of NDUFV1 gene variants is essential for a comprehensive understanding and effective treatment strategies.<\/jats:p>","DOI":"10.1093\/omcr\/omae166","type":"journal-article","created":{"date-parts":[[2025,4,9]],"date-time":"2025-04-09T07:55:32Z","timestamp":1744185332000},"source":"Crossref","is-referenced-by-count":3,"title":["Mitochondrial complex I deficiency in a 4-year-old boy due to compound heterozygous NDUFV1 mutation: a case report of a new pathogenic variant"],"prefix":"10.1093","volume":"2025","author":[{"given":"Salim","family":"Haddad","sequence":"first","affiliation":[{"name":"Damascus University Faculty of Medicine, , Damascus,","place":["Syrian Arab Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elie","family":"Salloum","sequence":"additional","affiliation":[{"name":"University of Heidelberg Faculty of Medicine, , Heidelberg,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah","family":"Silan","sequence":"additional","affiliation":[{"name":"Tishreen University Faculty of Medicine, , Latakia,","place":["Syrian Arab Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gazel","family":"kalecio\u011flu","sequence":"additional","affiliation":[{"name":"Aleppo University Faculty of Medicine, , Aleppo,","place":["Syrian Arab Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Abdulnour","sequence":"additional","affiliation":[{"name":"Damascus University Faculty of Medicine, , Damascus,","place":["Syrian Arab Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2215-7506","authenticated-orcid":false,"given":"Sultaneh","family":"Haddad","sequence":"additional","affiliation":[{"name":"Children\u2019s University Hospital , Damascus,","place":["Syrian 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Arabia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,4,8]]},"reference":[{"key":"2025042806362173900_ref1","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1007\/s13258-022-01260-x","article-title":"Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency","volume":"44","author":"Tang","year":"2022","journal-title":"Genes Genomics"},{"key":"2025042806362173900_ref2","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1186\/s40478-022-01445-1","article-title":"The neuropathologic findings in a case of progressive cavitating leukoencephalopathy due to NDUFV1 pathogenic variants","volume":"10","author":"Becker","year":"2022","journal-title":"Acta Neuropathol Commun"},{"key":"2025042806362173900_ref3","doi-asserted-by":"publisher","first-page":"e20210149","DOI":"10.1590\/1678-4685-gmb-2021-0149","article-title":"NDUFV1 mutations in complex I deficiency: case 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