{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T05:58:21Z","timestamp":1771048701350,"version":"3.50.1"},"reference-count":84,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2017,12,11]],"date-time":"2017-12-11T00:00:00Z","timestamp":1512950400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:p>Mitochondrial disorders (<jats:styled-content style=\"fixed-case\">MDs<\/jats:styled-content>) are caused by defects in 1 or multiple complexes of the oxidative phosphorylation (<jats:styled-content style=\"fixed-case\">OXPHOS<\/jats:styled-content>) machinery. <jats:styled-content style=\"fixed-case\">MDs<\/jats:styled-content> are associated with a broad range of clinical signs and symptoms, and have considerable clinical overlap with other neuromuscular syndromes. This overlap might be due to involvement of mitochondrial pathways in some of these non\u2010mitochondrial syndromes. Here, we give an overview of around 25 non\u2010mitochondrial syndromes, diagnosed in patients who were initially suspected to have a <jats:styled-content style=\"fixed-case\">MD<\/jats:styled-content> on the basis of clinical and biochemical parameters. In addition, we highlight the mitochondrial connections of 6 of these non\u2010mitochondrial syndromes (eg, Rett syndrome and Dravet syndrome) diagnosed in multiple patients. Further research to unravel the interplay between these genes and mitochondria may help to increase knowledge on these syndromes. Additionally, it may open new avenues for research on pathways interacting with mitochondrial function in order to find new targets for therapeutics to treat <jats:styled-content style=\"fixed-case\">MDs<\/jats:styled-content>. The data presented in this review underline the importance of careful assessment of clinical, genetic, and biochemical data in all patients suspected of a neuromuscular syndrome, and highlights the importance of the role of clinical geneticists, physicians, and clinical biochemists in recognizing the possible mitochondrial connection of non\u2010mitochondrial syndromes.<\/jats:p>","DOI":"10.1111\/cge.13094","type":"journal-article","created":{"date-parts":[[2017,7,7]],"date-time":"2017-07-07T14:25:20Z","timestamp":1499437520000},"page":"943-951","source":"Crossref","is-referenced-by-count":10,"title":["Mining for mitochondrial mechanisms: Linking known syndromes to mitochondrial function"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4384-505X","authenticated-orcid":false,"given":"D.M.","family":"Panneman","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Radboud Center for Mitochondrial Medicine Radboud University Medical 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