{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T09:20:01Z","timestamp":1790760001755,"version":"4.1.0"},"reference-count":31,"publisher":"MDPI AG","issue":"24","license":[{"start":{"date-parts":[[2022,12,14]],"date-time":"2022-12-14T00:00:00Z","timestamp":1670976000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"European Union\u2019s Horizon 2020 research and innovation program","award":["779257"],"award-info":[{"award-number":["779257"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Mutations in the human desmin gene (DES) may cause both autosomal dominant and recessive cardiomyopathies leading to heart failure, arrhythmias and atrio-ventricular blocks, or progressive myopathies. Cardiac conduction disorders, arrhythmias and cardiomyopathies usually associated with progressive myopathy are the main manifestations of autosomal dominant desminopathies, due to mono-allelic pathogenic variants. The recessive forms, due to bi-allelic variants, are very rare and exhibit variable phenotypes in which premature sudden cardiac death could also occur in the first or second decade of life. We describe a further case of autosomal recessive desminopathy in an Italian boy born of consanguineous parents, who developed progressive myopathy at age 12, and dilated cardiomyopathy four years later and died of intractable heart failure at age 17. Next Generation Sequencing (NGS) analysis identified the homozygous loss-of-function variant c.634C&gt;T; p.Arg212*, which was likely inherited from both parents. Furthermore, we performed a comparison of clinical and genetic results observed in our patient with those of cases so far reported in the literature.<\/jats:p>","DOI":"10.3390\/ijms232415906","type":"journal-article","created":{"date-parts":[[2022,12,14]],"date-time":"2022-12-14T05:59:40Z","timestamp":1670997580000},"page":"15906","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function"],"prefix":"10.3390","volume":"23","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8329-0215","authenticated-orcid":false,"given":"Maria Elena","family":"Onore","sequence":"first","affiliation":[{"name":"Medical Genetics and Cardiomyology, Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2591-244X","authenticated-orcid":false,"given":"Marco","family":"Savarese","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Research Center, 00280 Helsinki, Finland"},{"name":"Department of Medical and Clinical Genetics, Medicum, University of Helsinki, 00280 Helsinki, Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Picillo","sequence":"additional","affiliation":[{"name":"Medical Genetics and Cardiomyology, Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigia","family":"Passamano","sequence":"additional","affiliation":[{"name":"Medical Genetics and Cardiomyology, Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[{"name":"Medical Genetics and Cardiomyology, Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Napoli, Italy"},{"name":"Telethon Institute of Genetics and Medicine, 80078 Pozzuoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0925-7158","authenticated-orcid":false,"given":"Luisa","family":"Politano","sequence":"additional","affiliation":[{"name":"Cardiomyology and Medical Genetics, Department of Experimental Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Napoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1093\/brain\/awh033","article-title":"Desmin myopathy","volume":"127","author":"Goldfarb","year":"2004","journal-title":"Brain"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1007\/s12551-018-0443-2","article-title":"Intermediate filaments in cardiomyopathy","volume":"10","author":"Tsikitis","year":"2018","journal-title":"Biophys. 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