{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T02:42:59Z","timestamp":1777344179006,"version":"3.51.4"},"reference-count":35,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,3,22]],"date-time":"2026-03-22T00:00:00Z","timestamp":1774137600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000627","name":"The Guarantors of Brain","doi-asserted-by":"publisher","award":["1197319"],"award-info":[{"award-number":["1197319"]}],"id":[{"id":"10.13039\/501100000627","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"UK Research and Innovation Medical Research Council","doi-asserted-by":"publisher","award":["MR\/S005021\/1"],"award-info":[{"award-number":["MR\/S005021\/1"]}],"id":[{"id":"10.13039\/501100000265","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":[[2026,5]]},"DOI":"10.1016\/j.nmd.2026.106415","type":"journal-article","created":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T23:36:42Z","timestamp":1774136202000},"page":"106415","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Phenotypic characterization of dominantly inherited distal nebulin myopathy"],"prefix":"10.1016","volume":"62","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4006-8101","authenticated-orcid":false,"given":"Franclo","family":"Henning","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kireshnee","family":"Naidu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pearl","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mardelle","family":"Schoeman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Zaharie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krutik","family":"Patel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Dominik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Efthymiou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lindsay A.","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael G.","family":"Hanna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Volker","family":"Straub","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lydia","family":"Sagath","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vilma-Lotta","family":"Lehtokari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2026.106415_bib0001","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s10974-019-09565-3","article-title":"Nebulin: big protein with big responsibilities","volume":"41","author":"Yuen","year":"2020","journal-title":"J Muscle Res Cell Motil"},{"key":"10.1016\/j.nmd.2026.106415_bib0002","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1093\/brain\/awm094","article-title":"Distal myopathy caused by homozygous missense mutations in the nebulin gene","volume":"130","author":"Wallgren-Pettersson","year":"2007","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2026.106415_bib0003","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000200056","article-title":"Clinical manifestation of nebulin-associated nemaline myopathy","volume":"9","author":"Moreno","year":"2023","journal-title":"Neurol Genet"},{"key":"10.1016\/j.nmd.2026.106415_bib0004","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1016\/j.pediatrneurol.2014.04.002","article-title":"Congenital myopathy with cap-like structures and nemaline rods: case report and literature review","volume":"51","author":"Piteau","year":"2014","journal-title":"Pediatr Neurol"},{"key":"10.1016\/j.nmd.2026.106415_bib0005","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1212\/WNL.0b013e3181bacf45","article-title":"Core-rod myopathy caused by mutations in the nebulin gene","volume":"73","author":"Romero","year":"2009","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2026.106415_bib0006","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1002\/pd.4977","article-title":"Mutations in the NEB gene cause fetal akinesia\/arthrogryposis multiplex congenita","volume":"37","author":"Feingold-Zadok","year":"2017","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.nmd.2026.106415_bib0007","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1016\/j.nmd.2011.05.012","article-title":"Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy","volume":"21","author":"Lehtokari","year":"2011","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2026.106415_bib0008","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.nmd.2018.12.007","article-title":"Dominantly inherited distal nemaline\/cap myopathy caused by a large deletion in the nebulin gene","volume":"29","author":"Kiiski","year":"2019","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2026.106415_bib0009","doi-asserted-by":"crossref","first-page":"1153","DOI":"10.1038\/s41431-025-01891-0","article-title":"Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions","volume":"33","author":"Sagath","year":"2025","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nmd.2026.106415_bib0010","doi-asserted-by":"crossref","first-page":"5098","DOI":"10.1093\/brain\/awad254","article-title":"Neuromuscular disease genetics in under-represented populations: increasing data diversity","volume":"146","author":"Wilson","year":"2023","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2026.106415_bib0011","doi-asserted-by":"crossref","first-page":"307","DOI":"10.3233\/JND-170298","article-title":"An extended targeted copy number variation detection array including 187 genes for the diagnostics of neuromuscular disorders","volume":"5","author":"Sagath","year":"2018","journal-title":"J Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2026.106415_bib0012","doi-asserted-by":"crossref","DOI":"10.1016\/j.jbi.2019.103208","article-title":"The REDCap consortium: building an international community of software platform partners","volume":"95","author":"Harris","year":"2019","journal-title":"J Biomed Inf"},{"key":"10.1016\/j.nmd.2026.106415_bib0013","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1016\/j.jbi.2008.08.010","article-title":"Research electronic data capture (REDCap)\u2013a metadata-driven methodology and workflow process for providing translational research informatics support","volume":"42","author":"Harris","year":"2009","journal-title":"J Biomed Inf"},{"key":"10.1016\/j.nmd.2026.106415_bib0014","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/j.nmd.2021.03.006","article-title":"Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin","volume":"31","author":"Sagath","year":"2021","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2026.106415_bib0015","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1002\/mus.23380","article-title":"Expression of multiple nebulin isoforms in human skeletal muscle and brain","volume":"46","author":"Laitila","year":"2012","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2026.106415_bib0016","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1186\/s13023-016-0476-1","article-title":"MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients","volume":"11","author":"Fiorillo","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.nmd.2026.106415_bib0017","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.1111\/ene.14630","article-title":"A study of the phenotypic variability and disease progression in Laing myopathy through the evaluation of muscle imaging","volume":"28","author":"Muelas","year":"2021","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.nmd.2026.106415_bib0018","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1212\/WNL.0b013e3181eee4d5","article-title":"MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy","volume":"75","author":"Muelas","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2026.106415_bib0019","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/S0960-8966(00)00158-9","article-title":"Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus","volume":"11","author":"Voit","year":"2001","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2026.106415_bib0020","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1002\/humu.22553","article-title":"Novel mutations widen the phenotypic spectrum of slow skeletal\/beta-cardiac myosin (MYH7) distal myopathy","volume":"35","author":"Lamont","year":"2014","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2026.106415_bib0021","doi-asserted-by":"crossref","first-page":"968","DOI":"10.1016\/j.nmd.2021.08.015","article-title":"A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy","volume":"31","author":"Ogasawara","year":"2021","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2026.106415_bib0022","doi-asserted-by":"crossref","first-page":"1689","DOI":"10.1212\/WNL.55.11.1689","article-title":"A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy","volume":"55","author":"Scacheri","year":"2000","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2026.106415_bib0023","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/S0960-8966(00)00167-X","article-title":"Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene","volume":"11","author":"Jungbluth","year":"2001","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2026.106415_bib0024","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1086\/510402","article-title":"Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2","volume":"80","author":"Agrawal","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2026.106415_bib0025","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.ajhg.2010.10.020","article-title":"Dominant mutations in KBTBD13, a member of the BTB\/Kelch family, cause nemaline myopathy with cores","volume":"87","author":"Sambuughin","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2026.106415_bib0026","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1002\/ana.25660","article-title":"ASC-1 is a cell cycle regulator associated with severe and mild forms of myopathy","volume":"87","author":"Villar-Quiles","year":"2020","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2026.106415_bib0027","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1002\/ana.25685","article-title":"Novel recessive TNNT1 congenital core-rod myopathy in French Canadians","volume":"87","author":"Pellerin","year":"2020","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2026.106415_bib0028","doi-asserted-by":"crossref","first-page":"2599","DOI":"10.1093\/hmg\/9.18.2599","article-title":"An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor","volume":"9","author":"Monnier","year":"2000","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2026.106415_bib0029","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1136\/jmg.2004.020271","article-title":"Missense mutations of ACTA1 cause dominant congenital myopathy with cores","volume":"41","author":"Kaindl","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2026.106415_bib0030","doi-asserted-by":"crossref","first-page":"1545","DOI":"10.1093\/brain\/awg162","article-title":"A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions","volume":"126","author":"Gommans","year":"2003","journal-title":"Brain"},{"key":"10.1016\/j.nmd.2026.106415_bib0031","doi-asserted-by":"crossref","first-page":"R18","DOI":"10.1016\/j.cub.2005.12.003","article-title":"Nebulin: does it measure up as a ruler?","volume":"16","author":"Fowler","year":"2006","journal-title":"Curr Biol"},{"key":"10.1016\/j.nmd.2026.106415_bib0032","doi-asserted-by":"crossref","DOI":"10.1126\/sciadv.abc1992","article-title":"Nebulin and Lmod2 are critical for specifying thin-filament length in skeletal muscle","volume":"6","author":"Kiss","year":"2020","journal-title":"Sci Adv"},{"key":"10.1016\/j.nmd.2026.106415_bib0033","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1083\/jcb.201001043","article-title":"Nebulin regulates actin filament lengths by a stabilization mechanism","volume":"189","author":"Pappas","year":"2010","journal-title":"J Cell Biol"},{"key":"10.1016\/j.nmd.2026.106415_bib0034","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/0014-5793(91)80503-U","article-title":"Evidence that nebulin is a protein-ruler in muscle thin filaments","volume":"282","author":"Labeit","year":"1991","journal-title":"FEBS Lett"},{"key":"10.1016\/j.nmd.2026.106415_bib0035","doi-asserted-by":"crossref","first-page":"eabn1934","DOI":"10.1126\/science.abn1934","article-title":"Structures from intact myofibrils reveal mechanism of thin filament regulation through nebulin","volume":"375","author":"Wang","year":"2022","journal-title":"Science"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896626000830?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896626000830?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T02:13:22Z","timestamp":1777342402000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896626000830"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5]]},"references-count":35,"alternative-id":["S0960896626000830"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2026.106415","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2026,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Phenotypic characterization of dominantly inherited distal nebulin myopathy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2026.106415","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"106415"}}