{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,3]],"date-time":"2025-04-03T04:02:05Z","timestamp":1743652925699,"version":"3.40.3"},"reference-count":9,"publisher":"Cambridge University Press (CUP)","issue":"4","license":[{"start":{"date-parts":[[2025,3,14]],"date-time":"2025-03-14T00:00:00Z","timestamp":1741910400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/www.cambridge.org\/core\/terms"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Desminopathy is a rare heritable cardiac and skeletal muscle disease caused by variants in the <jats:italic>DES<\/jats:italic> gene, which encodes the primary muscle-specific intermediate filament protein, known as desmin. Childhood-onset is commonly associated with severe early-onset myopathy and early death. Here, we reported an 11-year-old Chinese girl presenting with complete atrioventricular block and cardiomyopathy, without skeletal muscle involvement. Genetic analysis identified a <jats:italic>de novo<\/jats:italic> variant (c.152C &gt; T\/p.Ser51Phe) in the <jats:italic>DES<\/jats:italic> gene.<\/jats:p>","DOI":"10.1017\/s1047951125000125","type":"journal-article","created":{"date-parts":[[2025,3,14]],"date-time":"2025-03-14T08:26:49Z","timestamp":1741940809000},"page":"850-852","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":0,"title":["Severe conduction block and cardiomyopathy associated with desminopathy"],"prefix":"10.1017","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0009-0004-2874-3049","authenticated-orcid":false,"given":"Ningning","family":"Sun","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunli","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7807-0963","authenticated-orcid":false,"given":"Shiwei","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"56","published-online":{"date-parts":[[2025,3,14]]},"reference":[{"key":"S1047951125000125_ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ceb.2020.10.001"},{"key":"S1047951125000125_ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2024.03.011"},{"key":"S1047951125000125_ref9","doi-asserted-by":"publisher","DOI":"10.3390\/biom12091324"},{"key":"S1047951125000125_ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2004.08.004"},{"key":"S1047951125000125_ref7","first-page":"100274","article-title":"Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: therapeutic implications","volume":"5","author":"Geist","year":"2024","journal-title":"HGG Adv"},{"key":"S1047951125000125_ref1","first-page":"2","article-title":"Type III Intermediate Filaments Desmin, Glial Fibrillary Acidic Protein (GFAP), Vimentin, and Peripherin","volume":"9","author":"Hol","year":"2017","journal-title":"CSH PERSPECT BIOL"},{"key":"S1047951125000125_ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.10.019"},{"key":"S1047951125000125_ref2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22084256"},{"key":"S1047951125000125_ref6","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1055\/a-1871-3692","article-title":"A severe form of familial desminopathy due to a homozygous nonsense DES variant in Two Siblings","volume":"54","author":"Claes","year":"2023","journal-title":"NEUROPEDIATRICS"}],"container-title":["Cardiology in the Young"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1047951125000125","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,2]],"date-time":"2025-04-02T04:02:07Z","timestamp":1743566527000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1047951125000125\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,14]]},"references-count":9,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["S1047951125000125"],"URL":"https:\/\/doi.org\/10.1017\/s1047951125000125","relation":{},"ISSN":["1047-9511","1467-1107"],"issn-type":[{"type":"print","value":"1047-9511"},{"type":"electronic","value":"1467-1107"}],"subject":[],"published":{"date-parts":[[2025,3,14]]},"assertion":[{"value":"\u00a9 The Author(s), 2025. Published by Cambridge University Press","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}}]}}