{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T00:20:23Z","timestamp":1760833223883,"version":"build-2065373602"},"reference-count":23,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2015,5,1]],"date-time":"2015-05-01T00:00:00Z","timestamp":1430438400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,5,1]],"date-time":"2015-05-01T00:00:00Z","timestamp":1430438400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"German Ministry of Education and Research"}],"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":[[2015,5]]},"DOI":"10.1016\/j.nmd.2015.01.013","type":"journal-article","created":{"date-parts":[[2015,2,3]],"date-time":"2015-02-03T12:41:31Z","timestamp":1422967291000},"page":"392-396","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Two novel nebulin variants in an adult patient with congenital nemaline myopathy"],"prefix":"10.1016","volume":"25","author":[{"given":"Anne K.","family":"G\u00fcttsches","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Dekomien","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristl G.","family":"Claeys","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maja","family":"von der Hagen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela","family":"Huebner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rudolf A.","family":"Kley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janbernd","family":"Kirschner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthias","family":"Vorgerd","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2015.01.013_bib0010","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1002\/mus.21190","article-title":"Adult nemaline myopathy with trabecular muscle fibers","volume":"39","author":"Irodenko","year":"2009","journal-title":"Muscle Nerve"},{"key":"10.1016\/j.nmd.2015.01.013_bib0015","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1007\/s11910-012-0255-x","article-title":"Congenital myopathies: an update","volume":"12","author":"Nance","year":"2012","journal-title":"Curr Neurol Neurosci Rep"},{"key":"10.1016\/j.nmd.2015.01.013_bib0020","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1097\/00005072-196607000-00005","article-title":"The fine structure of the rod-like bodies in nemaline myopathy and their relation to the Z-discs","volume":"25","author":"Gonatas","year":"1966","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1016\/j.nmd.2015.01.013_bib0025","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1002\/humu.21059","article-title":"Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1)","volume":"30","author":"Laing","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2015.01.013_bib0030","doi-asserted-by":"crossref","first-page":"1418","DOI":"10.1002\/humu.22693","article-title":"Mutation update: the spectra of nebulin variants and associated myopathies","volume":"35","author":"Lehtokari","year":"2014","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2015.01.013_bib0035","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S0960-8966(01)00252-8","article-title":"Mutations in the beta-tropomyosin (TPM2) gene \u2013 a rare cause of nemaline myopathy","volume":"12","author":"Donner","year":"2002","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2015.01.013_bib0040","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/ng0195-75","article-title":"A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy","volume":"9","author":"Laing","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.nmd.2015.01.013_bib0045","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1086\/303089","article-title":"A novel nemaline myopathy in the Amish caused by a mutation in troponin T1","volume":"67","author":"Johnston","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2015.01.013_bib0050","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.2015.01.013_bib0055","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1016\/j.ajhg.2013.05.004","article-title":"Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy","volume":"93","author":"Ravenscroft","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2015.01.013_bib0060","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1016\/j.ajhg.2013.10.020","article-title":"Identification of KLHL41 mutations implicates BTB-Kelch-Mediated ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathy","volume":"93","author":"Gupta","year":"2013","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.nmd.2015.01.013_bib0065","doi-asserted-by":"crossref","first-page":"4693","DOI":"10.1172\/JCI75199","article-title":"Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy","volume":"124","author":"Yuen","year":"2014","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nmd.2015.01.013_bib0070","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.spen.2011.10.004","article-title":"Nemaline myopathies","volume":"18","author":"Wallgren-Pettersson","year":"2011","journal-title":"Semin Pediatr Neurol"},{"key":"10.1016\/j.nmd.2015.01.013_bib0075","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.nmd.2005.10.001","article-title":"Facing the genetic heterogeneity in neuromuscular disorders: linkage analysis as an economic diagnostic approach towards the molecular diagnosis","volume":"16","author":"Von der Hagen","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2015.01.013_bib0080","doi-asserted-by":"crossref","first-page":"1249","DOI":"10.1038\/ejhg.2013.31","article-title":"Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing","volume":"21","author":"Scoto","year":"2013","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.nmd.2015.01.013_bib0085","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1016\/j.nmd.2004.08.005","article-title":"Magnetic resonance imaging of muscle in nemaline myopathy","volume":"14","author":"Jungbluth","year":"2004","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2015.01.013_bib0090","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.2015.01.013_bib0095","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.2015.01.013_bib0100","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.2015.01.013_bib0105","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/2044-5040-4-15","article-title":"Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations","volume":"4","author":"Marttila","year":"2014","journal-title":"Skeletal Muscle"},{"key":"10.1016\/j.nmd.2015.01.013_bib0110","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1038\/nmeth0810-575","article-title":"MutationTaster evaluates disease-causing potential of sequence alterations","volume":"7","author":"Schwarz","year":"2010","journal-title":"Nat Methods"},{"key":"10.1016\/j.nmd.2015.01.013_bib0115","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1016\/j.nmd.2015.01.013_bib0120","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.nmd.2012.07.007","article-title":"Targeted array comparative genomic hybridization\u2013a new diagnostic tool for the detection of large copy number variations in nemaline myopathy-causing genes","volume":"23","author":"Kiiski","year":"2013","journal-title":"Neuromuscul Disord"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896615000322?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896615000322?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:03:21Z","timestamp":1760774601000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896615000322"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,5]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,5]]}},"alternative-id":["S0960896615000322"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2015.01.013","relation":{},"ISSN":["0960-8966"],"issn-type":[{"type":"print","value":"0960-8966"}],"subject":[],"published":{"date-parts":[[2015,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Two novel nebulin variants in an adult patient with congenital nemaline myopathy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2015.01.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}