{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T13:08:34Z","timestamp":1791896914749,"version":"4.3.4"},"reference-count":24,"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":[[2023,3,11]],"date-time":"2023-03-11T00:00:00Z","timestamp":1678492800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003803","name":"The University of Hong Kong","doi-asserted-by":"publisher","award":["104005163"],"award-info":[{"award-number":["104005163"]}],"id":[{"id":"10.13039\/501100003803","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005847","name":"Health and Medical Research Fund","doi-asserted-by":"publisher","award":["03142176"],"award-info":[{"award-number":["03142176"]}],"id":[{"id":"10.13039\/501100005847","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.2023.03.003","type":"journal-article","created":{"date-parts":[[2023,3,12]],"date-time":"2023-03-12T01:34:43Z","timestamp":1678584883000},"page":"371-381","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":18,"title":["Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study"],"prefix":"10.1016","volume":"33","author":[{"given":"Anna KY","family":"Kwong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanmin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronnie SL","family":"Ho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu","family":"Ling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mandy HY","family":"Tsang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HM","family":"Luk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian HY","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten G","family":"B\u00f6nnemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asif","family":"Javed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2990-0163","authenticated-orcid":false,"given":"Sophelia HS","family":"Chan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"7","key":"10.1016\/j.nmd.2023.03.003_bib0001","first-page":"379","article-title":"The collagen VI-related myopathies: muscle meets its matrix","volume":"7","author":"Bonnemann","year":"2011","journal-title":"Nat Rev Neurosci"},{"issue":"9","key":"10.1016\/j.nmd.2023.03.003_bib0002","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"},{"issue":"42","key":"10.1016\/j.nmd.2023.03.003_bib0003","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.2023.03.003_bib0004","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1016\/j.matbio.2017.12.008","article-title":"Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond","volume":"71-72","author":"Lamande","year":"2018","journal-title":"Matrix Biol"},{"issue":"6","key":"10.1016\/j.nmd.2023.03.003_bib0005","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"},{"issue":"11","key":"10.1016\/j.nmd.2023.03.003_bib0006","doi-asserted-by":"crossref","first-page":"1558","DOI":"10.1002\/humu.22429","article-title":"Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies","volume":"34","author":"Butterfield","year":"2013","journal-title":"Hum Mutat"},{"issue":"5","key":"10.1016\/j.nmd.2023.03.003_bib0007","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"},{"issue":"4","key":"10.1016\/j.nmd.2023.03.003_bib0008","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":"Brinas","year":"2010","journal-title":"Ann Neurol"},{"issue":"10","key":"10.1016\/j.nmd.2023.03.003_bib0009","doi-asserted-by":"crossref","first-page":"e1413","DOI":"10.1212\/WNL.0000000000011499","article-title":"Association of initial maximal motor ability with long-term functional outcome in patients with COL6-related dystrophies","volume":"96","author":"Natera-de Benito","year":"2021","journal-title":"Neurology"},{"issue":"15","key":"10.1016\/j.nmd.2023.03.003_bib0010","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.4103\/0366-6999.186638","article-title":"Target\" and \"Sandwich\" signs in thigh muscles have high diagnostic values for collagen VI-related myopathies","volume":"129","author":"Fu","year":"2016","journal-title":"Chin Med J (Engl)"},{"issue":"6","key":"10.1016\/j.nmd.2023.03.003_bib0011","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.124403","article-title":"A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies","volume":"4","author":"Bolduc","year":"2019","journal-title":"JCI Insight"},{"issue":"3","key":"10.1016\/j.nmd.2023.03.003_bib0012","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1038\/s41587-020-0439-x","article-title":"The nf-core framework for community-curated bioinformatics pipelines","volume":"38","author":"Ewels","year":"2020","journal-title":"Nat Biotechnol"},{"issue":"12","key":"10.1016\/j.nmd.2023.03.003_bib0013","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1186\/s13059-014-0550-8","article-title":"Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2","volume":"15","author":"Love","year":"2014","journal-title":"Genome Biol"},{"issue":"3","key":"10.1016\/j.nmd.2023.03.003_bib0014","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1002\/ana.21439","article-title":"Collagen VI glycine mutations: perturbed assembly and a spectrum of clinical severity","volume":"64","author":"Pace","year":"2008","journal-title":"Ann Neurol"},{"issue":"12","key":"10.1016\/j.nmd.2023.03.003_bib0015","doi-asserted-by":"crossref","first-page":"1424","DOI":"10.1001\/jamaneurol.2015.2274","article-title":"Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned","volume":"72","author":"Ghaoui","year":"2015","journal-title":"JAMA Neurol"},{"issue":"Pt 12","key":"10.1016\/j.nmd.2023.03.003_bib0016","doi-asserted-by":"crossref","first-page":"3625","DOI":"10.1093\/brain\/awt284","article-title":"Natural history of pulmonary function in collagen VI-related myopathies","volume":"136","author":"Foley","year":"2013","journal-title":"Brain"},{"issue":"10","key":"10.1016\/j.nmd.2023.03.003_bib0017","doi-asserted-by":"crossref","first-page":"7422","DOI":"10.1074\/jbc.M002816200","article-title":"The role of the C1 and C2 a-domains in type VI collagen assembly","volume":"276","author":"Ball","year":"2001","journal-title":"J Biol Chem"},{"issue":"12","key":"10.1016\/j.nmd.2023.03.003_bib0018","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0189664","article-title":"Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy","volume":"12","author":"Butterfield","year":"2017","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.nmd.2023.03.003_bib0019","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1186\/s13023-021-01921-2","article-title":"Causative variant profile of collagen VI-related dystrophy in Japan","volume":"16","author":"Inoue","year":"2021","journal-title":"Orphanet J Rare Dis"},{"issue":"386","key":"10.1016\/j.nmd.2023.03.003_bib0020","doi-asserted-by":"crossref","DOI":"10.1126\/scitranslmed.aal5209","article-title":"Improving genetic diagnosis in Mendelian disease with transcriptome sequencing","volume":"9","author":"Cummings","year":"2017","journal-title":"Sci Transl Med"},{"key":"10.1016\/j.nmd.2023.03.003_bib0021","doi-asserted-by":"crossref","first-page":"S106","DOI":"10.1016\/j.nmd.2017.06.055","article-title":"A common COL6A1 deep-intronic pseudo-exon inserting mutation causes a distinct phenotype of Ullrich congenital muscular dystrophy","volume":"27","author":"Reghan Foley","year":"2017","journal-title":"Neuromuscul Disord"},{"issue":"3","key":"10.1016\/j.nmd.2023.03.003_bib0022","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1002\/mus.26093","article-title":"Collagen VI-related myopathy: expanding the clinical and genetic spectrum","volume":"58","author":"Kim","year":"2018","journal-title":"Muscle Nerve"},{"issue":"10","key":"10.1016\/j.nmd.2023.03.003_bib0023","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1212\/01.wnl.0000271387.10404.4e","article-title":"Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan","volume":"69","author":"Okada","year":"2007","journal-title":"Neurology"},{"issue":"6","key":"10.1016\/j.nmd.2023.03.003_bib0024","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1111\/cge.13230","article-title":"Genetic and clinical findings in a Chinese cohort of patients with collagen VI-related myopathies","volume":"93","author":"Fan","year":"2018","journal-title":"Clin Genet"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896623000676?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896623000676?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:13:06Z","timestamp":1760775186000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896623000676"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5]]},"references-count":24,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["S0960896623000676"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2023.03.003","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":"Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2023.03.003","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"}]}}