{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T10:42:23Z","timestamp":1784025743613,"version":"3.55.0"},"reference-count":12,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,3,26]],"date-time":"2017-03-26T00:00:00Z","timestamp":1490486400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p><jats:italic>Introduction:<\/jats:italic> Acyl\u2010coenzyme A dehydrogenase 9 (ACAD9) has a role in mitochondrial complex I (CI) assembly. Only a few patients who carry <jats:italic>ACAD9<\/jats:italic> mutations have been reported. They mainly present with severe hypertrophic cardiomyopathy, although a minority have only mild isolated myopathy. Although the secondary factors influencing disease severity have not been elucidated, conservation of CI assembly and residual enzymatic activity have been suggested as explanations for the mild phenotypes associated with <jats:italic>ACAD9<\/jats:italic> mutations. <jats:italic>Methods:<\/jats:italic> We report a novel homozygous <jats:italic>ACAD9<\/jats:italic> mutation (c.1240C&gt;T; p.Arg414Cys) in a 34\u2010year\u2010old woman who presented with non\u2010progressive myopathy. <jats:italic>Results:<\/jats:italic> We show that this <jats:italic>ACAD9<\/jats:italic> mutation led to a severe defect in CI assembly in the patient's muscle. Furthermore, the impact of CI deficiency is confirmed by accumulation of mitochondrial DNA deletions. <jats:italic>Conclusion:<\/jats:italic> Our data suggest that a major defect of CI assembly is not responsible for a severe phenotype. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>55<\/jats:bold>: 919\u2013922, 2017<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.25262","type":"journal-article","created":{"date-parts":[[2016,7,20]],"date-time":"2016-07-20T15:36:48Z","timestamp":1469029008000},"page":"919-922","source":"Crossref","is-referenced-by-count":7,"title":["Severe defect in mitochondrial complex I assembly with mitochondrial DNA deletions in <i>ACAD9<\/i>\u2010deficient mild myopathy"],"prefix":"10.1002","volume":"55","author":[{"given":"Konstantina","family":"Fragaki","sequence":"first","affiliation":[{"name":"Nice Sophia Antipolis University, Institute for Research on Cancer and Aging (IRCAN), CNRS, INSERM, UMR 7284 and U1081, School of Medicine 28 avenue de Valombrose 06107 Nice cedex 2 France"},{"name":"Department of Medical Genetics National Centre for Mitochondrial Diseases, Nice Teaching Hospital Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annabelle","family":"Chaussenot","sequence":"additional","affiliation":[{"name":"Nice Sophia Antipolis University, Institute for Research on Cancer and Aging (IRCAN), CNRS, INSERM, UMR 7284 and U1081, School of Medicine 28 avenue de Valombrose 06107 Nice cedex 2 France"},{"name":"Department of Medical Genetics National Centre for Mitochondrial Diseases, Nice Teaching Hospital Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Boutron","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Bicetre Hospital, Assistance Publique des H\u00f4pitaux de Paris (AP\u2010HP), Paris\u2010Sud Teaching Hospital Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Bannwarth","sequence":"additional","affiliation":[{"name":"Nice Sophia Antipolis University, Institute for Research on Cancer and Aging (IRCAN), CNRS, INSERM, UMR 7284 and U1081, School of Medicine 28 avenue de Valombrose 06107 Nice cedex 2 France"},{"name":"Department of Medical Genetics National Centre for Mitochondrial Diseases, Nice Teaching Hospital Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"Cochaud","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics National Centre for Mitochondrial Diseases, Nice Teaching Hospital Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Richelme","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Nice Teaching Hospital Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Sacconi","sequence":"additional","affiliation":[{"name":"National Centre for Neuromuscular Disorders, Nice Teaching Hospital Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronique","family":"Paquis\u2010Flucklinger","sequence":"additional","affiliation":[{"name":"Nice Sophia Antipolis University, Institute for Research on Cancer and Aging (IRCAN), CNRS, INSERM, UMR 7284 and U1081, School of Medicine 28 avenue de Valombrose 06107 Nice cedex 2 France"},{"name":"Department of Medical Genetics National Centre for Mitochondrial Diseases, Nice Teaching Hospital Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.706"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2013_242"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.264"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq273"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2013.3197"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(94)90055-8"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(76)90527-3"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu138"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198905183202001"},{"key":"e_1_2_6_11_1","first-page":"131","article-title":"Rapid mapping of mitochondrial DNA deletions by large\u2010fragment PCR","volume":"12","author":"Paul R","year":"1996","journal-title":"Trends Genet"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.f.94"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv074"}],"container-title":["Muscle &amp; 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