{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T06:38:47Z","timestamp":1780468727600,"version":"3.54.1"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T00:00:00Z","timestamp":1736985600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Hypertrophic cardiomyopathy (HCM) is rare in childhood, but it is associated with significant morbidity and mortality. Genetic causes of HCM are mostly related to sarcomeric genes abnormalities; however, syndromic, metabolic, and mitochondrial disorders play an important role in its etiopathogenesis in pediatric patients. We here describe a new case of apparently isolated HCM due to mitochondrial assembly factor gene <jats:italic>NDUFAF1<\/jats:italic> biallelic variants (c.631C\u2009&gt;\u2009T and an intragenic deletion encompassing exon 3, NM_016013.4). Alterations of this nuclear gene have been associated to Mitochondrial complex I deficiency, nuclear type 11 (OMIM *618234). We here report the fourth case of a child affected by complex I deficiency due to alterations in <jats:italic>NDUFAF1<\/jats:italic> gene. His clinical features appear simpler when compared to the other cases described in the medical literature, increasing our knowledge regarding the highly heterogeneous clinical presentation associated with this disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.63994","type":"journal-article","created":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T06:55:32Z","timestamp":1737096932000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Mitochondrial Complex I Deficiency: Unraveling the Relevance of <scp><i>NDUFAF1<\/i><\/scp> in Pediatric Hypertrophic Cardiomyopathy"],"prefix":"10.1002","volume":"197","author":[{"given":"Silvia","family":"Kalantari","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"},{"name":"Medical Genetics Unit, Department of Diagnostic Medicine Fondazione IRCCS Policlinico San Matteo  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Veraldi","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, IRCCS Policlinico San Matteo Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3795-1972","authenticated-orcid":false,"given":"Davide","family":"Politano","sequence":"additional","affiliation":[{"name":"Department of Brain and Behavioral Sciences University of Pavia  Pavia Italy"},{"name":"Department of Child Neurology and Psychiatry IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia","family":"Apicella","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, IRCCS Policlinico San Matteo Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Castagnoli","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, IRCCS Policlinico San Matteo Foundation  Pavia Italy"},{"name":"Department of Clinical, Surgical, Diagnostic and Pediatric Sciences University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Foiadelli","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, IRCCS Policlinico San Matteo Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fulvio","family":"D'Abrusco","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Giorgio","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"},{"name":"Neurogenetics Research Centre, IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Berardinelli","sequence":"additional","affiliation":[{"name":"Department of Child Neurology and Psychiatry IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessia Claudia","family":"Codazzi","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, IRCCS Policlinico San Matteo Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluigi","family":"Marseglia","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, IRCCS Policlinico San Matteo Foundation  Pavia Italy"},{"name":"Medical Genetics Unit IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"},{"name":"Neurogenetics Research Centre, IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Sirchia","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"},{"name":"Medical Genetics Unit, Department of Diagnostic Medicine Fondazione IRCCS Policlinico San Matteo  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,1,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2022.11.025"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0094157"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.emboj.7601748"},{"key":"e_1_2_9_5_1","unstructured":"Durkie M. 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