{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T00:24:59Z","timestamp":1791591899619,"version":"4.3.4"},"reference-count":42,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T00:00:00Z","timestamp":1684886400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005111","name":"Copenhagen University Hospital","doi-asserted-by":"publisher","award":["E-22394\u201301"],"award-info":[{"award-number":["E-22394\u201301"]}],"id":[{"id":"10.13039\/501100005111","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002918","name":"Gentofte Hospital","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002918","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":[[2023,7]]},"DOI":"10.1016\/j.nmd.2023.05.007","type":"journal-article","created":{"date-parts":[[2023,5,24]],"date-time":"2023-05-24T21:06:37Z","timestamp":1684962397000},"page":"539-545","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["Homozygous splice variant (c.1741-6G&gt;A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy"],"prefix":"10.1016","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7440-679X","authenticated-orcid":false,"given":"Maria","family":"Barington","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morten","family":"Dun\u00f8","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulf","family":"Birkedal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Vissing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfred Peter","family":"Born","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Krag","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas van Overeem","family":"Hansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsebet","family":"\u00d8stergaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2023.05.007_bib0001","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1006\/geno.1995.9008","article-title":"Head to tail organization of the human COL6A1 and COL6A2 genes by fiber-FISH","volume":"29","author":"Heiskanen","year":"1995","journal-title":"Genomics"},{"key":"10.1016\/j.nmd.2023.05.007_bib0002","first-page":"435","article-title":"Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen","volume":"42","author":"Weil","year":"1988","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2023.05.007_bib0003","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1042\/bj2110303","article-title":"Electron-microscopical approach to a structural model of intima collagen","volume":"211","author":"Furthmayr","year":"1983","journal-title":"Biochem J"},{"key":"10.1016\/j.nmd.2023.05.007_bib0004","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1083\/jcb.102.3.703","article-title":"Molecular assembly, secretion, and matrix deposition of type VI collagen","volume":"102","author":"Engvall","year":"1986","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nmd.2023.05.007_bib0005","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1111\/j.1432-1033.1994.tb18727.x","article-title":"Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI","volume":"221","author":"Tillet","year":"1994","journal-title":"Eur J Biochem"},{"key":"10.1016\/j.nmd.2023.05.007_bib0006","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/0014-4827(89)90103-1","article-title":"Cell attachment properties of collagen type VI and Arg-Gly-Asp dependent binding to its alpha 2(VI) and alpha 3(VI) chains","volume":"181","author":"Aumailley","year":"1989","journal-title":"Exp Cell Res"},{"key":"10.1016\/j.nmd.2023.05.007_bib0007","doi-asserted-by":"crossref","first-page":"26522","DOI":"10.1074\/jbc.272.42.26522","article-title":"Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen","volume":"272","author":"Kuo","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1016\/j.nmd.2023.05.007_bib0008","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1016\/S0945-053X(01)00160-3","article-title":"Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts","volume":"20","author":"Sabatelli","year":"2001","journal-title":"Matrix Biol"},{"key":"10.1016\/j.nmd.2023.05.007_bib0009","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/ng1270","article-title":"Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency","volume":"35","author":"Irwin","year":"2003","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2023.05.007_bib0010","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1136\/jmg.2002.002311","article-title":"Collagen VI related muscle disorders","volume":"42","author":"Lampe","year":"2005","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2023.05.007_bib0011","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1212\/WNL.0b013e3181aae851","article-title":"Natural history of Ullrich congenital muscular dystrophy","volume":"73","author":"Nadeau","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2023.05.007_bib0012","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1212\/WNL.58.9.1354","article-title":"Collagen VI involvement in Ullrich syndrome: a clinical, genetic, and immunohistochemical study","volume":"58","author":"Mercuri","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2023.05.007_bib0013","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1016\/j.nmd.2008.07.011","article-title":"Skin changes in Ullrich congenital muscular dystrophy","volume":"18","author":"Nadeau","year":"2008","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2023.05.007_bib0014","doi-asserted-by":"crossref","first-page":"e1298","DOI":"10.1259\/bjr\/14063641","article-title":"Skeletal muscle disease: patterns of MRI appearances","volume":"85","author":"Theodorou","year":"2012","journal-title":"Br J Radiol"},{"key":"10.1016\/j.nmd.2023.05.007_bib0015","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1136\/jmg.14.6.426","article-title":"Congenital, hypotonic-sclerotic muscular dystrophy","volume":"14","author":"Furukawa","year":"1977","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2023.05.007_bib0016","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/2044-5040-1-30","article-title":"ColVI myopathies: where do we stand, where do we go?","volume":"1","author":"Allamand","year":"2011","journal-title":"Skelet Muscle"},{"key":"10.1016\/j.nmd.2023.05.007_bib0017","unstructured":"HGMD\u00ae Professional 2022.4."},{"key":"10.1016\/j.nmd.2023.05.007_bib0018","unstructured":"Hamroun GBFRD. 2023."},{"key":"10.1016\/j.nmd.2023.05.007_bib0019","series-title":"Johns Hopkins University School of Medicine, OMIM\u00ae - Online Mendelian Inheritance in Man\u00ae","author":"tM-NIoGM","year":"2023"},{"key":"10.1016\/j.nmd.2023.05.007_bib0020","unstructured":"ClinVar, National Library of Medicine."},{"key":"10.1016\/j.nmd.2023.05.007_bib0021","unstructured":"gnomAd, Genome Aggregation Database."},{"key":"10.1016\/j.nmd.2023.05.007_bib0022","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.nmd.2023.05.007_bib0023","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1089\/1066527041410418","article-title":"Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals","volume":"11","author":"Yeo","year":"2004","journal-title":"J Comput Biol"},{"key":"10.1016\/j.nmd.2023.05.007_bib0024","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1002\/mus.26067","article-title":"Collagen XII myopathy with rectus femoris atrophy and collagen XII retention in fibroblasts","volume":"57","author":"Witting","year":"2018","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2023.05.007_bib0025","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1373\/clinchem.2013.210658","article-title":"Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing","volume":"60","author":"Whiley","year":"2014","journal-title":"Clin Chem"},{"key":"10.1016\/j.nmd.2023.05.007_bib0026","unstructured":"Medicine NLo, ClinVar."},{"key":"10.1016\/j.nmd.2023.05.007_bib0027","doi-asserted-by":"crossref","first-page":"273","DOI":"10.3233\/JND-200476","article-title":"Intrafamilial phenotypic variability of collagen VI-related myopathy due to a new mutation in the COL6A1 Gene","volume":"8","author":"Bardakov","year":"2021","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2023.05.007_bib0028","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1136\/jnnp-2013-307245","article-title":"Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution","volume":"86","author":"Deconinck","year":"2015","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"10.1016\/j.nmd.2023.05.007_bib0029","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1002\/ana.22087","article-title":"Early onset collagen VI myopathies: genetic and clinical correlations","volume":"68","author":"Bri\u00f1as","year":"2010","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2023.05.007_bib0030","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1212\/01.WNL.0000163990.00057.66","article-title":"Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy","volume":"64","author":"Lucioli","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2023.05.007_bib0031","unstructured":"ClinVar, NM_001848.3(COL6A1):c.1741-6G>A. 2022 National Library of Medicine."},{"key":"10.1016\/j.nmd.2023.05.007_bib0032","doi-asserted-by":"crossref","first-page":"6414","DOI":"10.1128\/MCB.20.17.6414-6425.2000","article-title":"Multiple splicing defects in an intronic false exon","volume":"20","author":"Sun","year":"2000","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.nmd.2023.05.007_bib0033","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1002\/(SICI)1097-0223(199908)19:8<739::AID-PD626>3.0.CO;2-A","article-title":"Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation","volume":"19","author":"Ars","year":"1999","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.nmd.2023.05.007_bib0034","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1136\/jmg.2004.029538","article-title":"Splicing in action: assessing disease causing sequence changes","volume":"42","author":"Baralle","year":"2005","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2023.05.007_bib0035","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1002\/ana.22283","article-title":"Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy","volume":"69","author":"Foley","year":"2011","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2023.05.007_bib0036","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1002\/humu.20704","article-title":"Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance","volume":"29","author":"Lampe","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2023.05.007_bib0037","doi-asserted-by":"crossref","first-page":"1645","DOI":"10.1038\/s41588-019-0517-5","article-title":"The impact of nonsense-mediated mRNA decay on genetic disease, gene editing and cancer immunotherapy","volume":"51","author":"Lindeboom","year":"2019","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2023.05.007_bib0038","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1038\/ng.3664","article-title":"The rules and impact of nonsense-mediated mRNA decay in human cancers","volume":"48","author":"Lindeboom","year":"2016","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2023.05.007_bib0039","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/B978-0-08-045031-5.00005-0","article-title":"The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy","volume":"101","author":"B\u00f6nnemann","year":"2011","journal-title":"Handb Clin Neurol"},{"key":"10.1016\/j.nmd.2023.05.007_bib0040","unstructured":"(ab6588) Anti-Collagen VI antibody. 2023 [cited 09\/01\/2023]; Available from: https:\/\/www.citeab.com\/antibodies\/724149-ab6588-anti-collagen-vi-antibody."},{"key":"10.1016\/j.nmd.2023.05.007_bib0041","doi-asserted-by":"crossref","first-page":"571","DOI":"10.1016\/j.nmd.2006.07.015","article-title":"A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations","volume":"16","author":"Jimenez-Mallebrera","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2023.05.007_bib0042","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.1212\/01.wnl.0000307749.66438.6d","article-title":"A refined diagnostic algorithm for Bethlem myopathy","volume":"70","author":"Hicks","year":"2008","journal-title":"Neurology"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096089662300144X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096089662300144X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:13:18Z","timestamp":1760775198000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S096089662300144X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7]]},"references-count":42,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["S096089662300144X"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2023.05.007","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2023,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2023.05.007","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Author(s). Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}