{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T11:42:34Z","timestamp":1770464554670,"version":"3.49.0"},"reference-count":19,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100003130","name":"FWO","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003130","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007372","name":"ABMM","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007372","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2023,5]]},"DOI":"10.1016\/j.nmd.2023.04.003","type":"journal-article","created":{"date-parts":[[2023,4,7]],"date-time":"2023-04-07T20:14:28Z","timestamp":1680898468000},"page":"432-439","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":5,"title":["A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype"],"prefix":"10.1016","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2754-5302","authenticated-orcid":false,"given":"Willem","family":"De Ridder","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Geert","family":"de Vries","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristof","family":"Van Schil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tine","family":"Deconinck","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Mouly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan","family":"Baets","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2023.04.003_bib0001","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1097\/WCO.0000000000000375","article-title":"Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies","volume":"29","author":"Vissing","year":"2016","journal-title":"Curr Opin Neurol"},{"key":"10.1016\/j.nmd.2023.04.003_bib0002","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1172\/JCI79562","article-title":"POPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein trafficking","volume":"126","author":"Schindler","year":"2016","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nmd.2023.04.003_bib0003","doi-asserted-by":"crossref","DOI":"10.1016\/j.jns.2020.117259","article-title":"Severe adolescent-onset limb-girdle muscular dystrophy due to a novel homozygous nonsense BVES variant","volume":"420","author":"Beecher","year":"2021","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.nmd.2023.04.003_bib0004","doi-asserted-by":"crossref","first-page":"674","DOI":"10.1016\/j.nmd.2020.06.004","article-title":"Two Japanese LGMDR25 patients with a biallelic recurrent nonsense variant of BVES","volume":"30","author":"Indrawati","year":"2020","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2023.04.003_bib0005","doi-asserted-by":"crossref","first-page":"e321","DOI":"10.1212\/NXG.0000000000000321","article-title":"Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES","volume":"5","author":"De Ridder","year":"2019","journal-title":"Neurol Genet"},{"key":"10.1016\/j.nmd.2023.04.003_bib0006","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1186\/s40478-022-01501-w","article-title":"Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking","volume":"11","author":"Swan","year":"2023","journal-title":"Acta Neuropathol Commun"},{"key":"10.1016\/j.nmd.2023.04.003_bib0007","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1016\/j.ymgme.2022.05.005","article-title":"Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)","volume":"136","author":"Gangfu\u00df","year":"2022","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.nmd.2023.04.003_bib0008","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1002\/ana.25620","article-title":"POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy","volume":"86","author":"Vissing","year":"2019","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2023.04.003_bib0009","doi-asserted-by":"crossref","first-page":"e3412","DOI":"10.1002\/jgm.3412","article-title":"Homozygous missense variant in POPDC3 causes recessive limb-girdle muscular dystrophy type 26","volume":"24","author":"Ullah","year":"2022","journal-title":"J Gene Med"},{"key":"10.1016\/j.nmd.2023.04.003_bib0010","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.cellsig.2017.09.015","article-title":"New kids on the block: the Popeye domain containing (POPDC) protein family acting as a novel class of cAMP effector proteins in striated muscle","volume":"40","author":"Brand","year":"2017","journal-title":"Cell Signal"},{"issue":"4","key":"10.1016\/j.nmd.2023.04.003_bib0011","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1111\/cge.14192","article-title":"A novel splice site variant in the POPDC3 causes autosomal recessive limb-girdle muscular dystrophy type 26","volume":"102","author":"Zhang","year":"2022","journal-title":"Clin Genet"},{"key":"10.1016\/j.nmd.2023.04.003_bib0012","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1002\/jmri.20804","article-title":"Muscle MRI in inherited neuromuscular disorders: past, present, and future","volume":"25","author":"Mercuri","year":"2007","journal-title":"J Magn Reson imaging"},{"key":"10.1016\/j.nmd.2023.04.003_bib0013","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1186\/s13073-014-0074-6","article-title":"VariantDB: a flexible annotation and filtering portal for next generation sequencing data","volume":"6","author":"Vandeweyer","year":"2014","journal-title":"Genome Med"},{"key":"10.1016\/j.nmd.2023.04.003_bib0014","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.nmd.2023.04.003_bib0015","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1007\/s10974-019-09523-z","article-title":"The Popeye domain containing gene family encoding a family of cAMP-effector proteins with important functions in striated muscle and beyond","volume":"40","author":"Swan","year":"2019","journal-title":"J Muscle Res Cell Motil"},{"key":"10.1016\/j.nmd.2023.04.003_bib0016","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1093\/brain\/awn053","article-title":"Interrelation of inflammation and APP in sIBM: IL-1 beta induces accumulation of beta-amyloid in skeletal muscle","volume":"131","author":"Schmidt","year":"2008","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2023.04.003_bib0017","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/2044-5040-1-34","article-title":"Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders","volume":"1","author":"Mamchaoui","year":"2011","journal-title":"Skelet Muscle"},{"key":"10.1016\/j.nmd.2023.04.003_bib0018","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1373\/clinchem.2008.112797","article-title":"The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments","volume":"55","author":"Bustin","year":"2009","journal-title":"Clin Chem"},{"key":"10.1016\/j.nmd.2023.04.003_bib0019","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1111\/j.1468-1331.2010.03012.x","article-title":"EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia","volume":"17","author":"Kyriakides","year":"2010","journal-title":"Eur J Neurol"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896623001037?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896623001037?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:13:56Z","timestamp":1760775236000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896623001037"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5]]},"references-count":19,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["S0960896623001037"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2023.04.003","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2023,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A homozygous loss of function variant in POPDC3: From invalidating exercise intolerance to a limb-girdle muscular dystrophy phenotype","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2023.04.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}