{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T17:08:20Z","timestamp":1790010500954,"version":"4.0.1"},"reference-count":19,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2027,9,21]],"date-time":"2027-09-21T00:00:00Z","timestamp":1821484800000},"content-version":"am","delay-in-days":324,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T00:00:00Z","timestamp":1793491200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["UM1 HG008900"],"award-info":[{"award-number":["UM1 HG008900"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["MDA577346"],"award-info":[{"award-number":["MDA577346"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011724","name":"Muscular Dystrophy UK","doi-asserted-by":"publisher","award":["1GRO-PG24-0271"],"award-info":[{"award-number":["1GRO-PG24-0271"]}],"id":[{"id":"10.13039\/100011724","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003784","name":"Great Ormond Street Hospital for Children","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003784","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010661","name":"Horizon 2020 Framework Programme","doi-asserted-by":"publisher","award":["779257"],"award-info":[{"award-number":["779257"]}],"id":[{"id":"10.13039\/100010661","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","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":[[2026,11]]},"DOI":"10.1016\/j.nmd.2026.107420","type":"journal-article","created":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T16:18:32Z","timestamp":1788970712000},"page":"107420","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Expanding the clinical and genetic spectrum of biallelic MYO18B pathogenic variants in congenital myopathy"],"prefix":"10.1016","volume":"68","author":[{"given":"Irina T","family":"Zaharieva","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Donkervoort","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheryl","family":"Longman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2168-1119","authenticated-orcid":false,"given":"A. Reghan","family":"Foley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iain","family":"Horrocks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Elena","family":"Farrugia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Phadke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5105-121X","authenticated-orcid":false,"given":"Sara","family":"Aguti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jo","family":"McCauley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah B.","family":"Neuhaus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-8129-164X","authenticated-orcid":false,"given":"Miriam","family":"Essid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thouraya Ben","family":"Younes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hedia","family":"Klaa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanene","family":"Benrhouma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-8005-591X","authenticated-orcid":false,"given":"Reagan H C","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilhem","family":"BenYoussef-Turki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichraf","family":"Kraoua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0151-6482","authenticated-orcid":false,"given":"Yalda","family":"Jamshidi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2897-2410","authenticated-orcid":false,"given":"Katherine R.","family":"Chao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7840-0002","authenticated-orcid":false,"given":"Maha S.","family":"Zaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1353-0583","authenticated-orcid":false,"given":"Anna","family":"Sarkozy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carsten G.","family":"B\u00f6nnemann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9102-5232","authenticated-orcid":false,"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.nmd.2026.107420_bib0001","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1016\/S0022-2836(02)01335-9","article-title":"Human MYO18B, a novel unconventional myosin heavy chain expressed in striated muscles moves into the myonuclei upon differentiation","volume":"326","author":"Salamon","year":"2003","journal-title":"J Mol Biol"},{"issue":"5350","key":"10.1016\/j.nmd.2026.107420_bib0002","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1126\/science.279.5350.527","article-title":"Unconventional myosins in cell movement, membrane traffic, and signal transduction","volume":"279","author":"Mermall","year":"1998","journal-title":"Science"},{"issue":"9","key":"10.1016\/j.nmd.2026.107420_bib0003","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2020.108090","article-title":"Myosin-18B regulates higher-order organization of the cardiac sarcomere through thin filament cross-linking and thick filament dynamics","volume":"32","author":"Latham","year":"2020","journal-title":"Cell Rep"},{"issue":"6","key":"10.1016\/j.nmd.2026.107420_bib0004","first-page":"1146","article-title":"Myo18b is essential for sarcomere assembly in fast skeletal muscle","volume":"26","author":"Berger","year":"2017","journal-title":"Hum Mol Genet"},{"issue":"10","key":"10.1016\/j.nmd.2026.107420_bib0005","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1111\/j.1365-2443.2008.01226.x","article-title":"Deficiency of Myo18B in mice results in embryonic lethality with cardiac myofibrillar aberrations","volume":"13","author":"Ajima","year":"2008","journal-title":"Genes Cells"},{"issue":"3","key":"10.1016\/j.nmd.2026.107420_bib0006","doi-asserted-by":"crossref","first-page":"219","DOI":"10.3233\/JND-150085","article-title":"A premature stop codon in MYO18B is associated with severe nemaline myopathy with cardiomyopathy","volume":"2","author":"Malfatti","year":"2015","journal-title":"J Neuromuscul Dis"},{"issue":"6","key":"10.1016\/j.nmd.2026.107420_bib0007","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1136\/jmedgenet-2014-102964","article-title":"A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B","volume":"52","author":"Alazami","year":"2015","journal-title":"J Med Genet"},{"issue":"8","key":"10.1016\/j.nmd.2026.107420_bib0008","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2019.103701","article-title":"Expanding the clinical history associated with syndromic Klippel-Feil: a unique case of comorbidity with medulloblastoma","volume":"62","author":"Schieffer","year":"2019","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.nmd.2026.107420_bib0009","doi-asserted-by":"crossref","DOI":"10.1016\/j.gene.2020.144542","article-title":"A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions","volume":"742","author":"Brunet","year":"2020","journal-title":"Gene"},{"issue":"4","key":"10.1016\/j.nmd.2026.107420_bib0010","doi-asserted-by":"crossref","DOI":"10.1212\/NXG.0000000000000458","article-title":"Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient","volume":"6","author":"Mihaylova","year":"2020","journal-title":"Neurol Genet"},{"issue":"2","key":"10.1016\/j.nmd.2026.107420_bib0011","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1002\/ajmg.a.61957","article-title":"Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism","volume":"185","author":"Altuame","year":"2021","journal-title":"Am J Med Genet A"},{"issue":"1","key":"10.1016\/j.nmd.2026.107420_bib0012","doi-asserted-by":"crossref","DOI":"10.1097\/MPH.0000000000000463","article-title":"Genomic characterization of poorly differentiated neuroendocrine carcinoma in a pediatric patient","volume":"38","author":"Bhatla","year":"2016","journal-title":"J Pediatr Hematol Oncol"},{"issue":"2","key":"10.1016\/j.nmd.2026.107420_bib0013","doi-asserted-by":"crossref","DOI":"10.1002\/humu.20927","article-title":"Mutational profiling of cancer candidate genes in glioblastoma, melanoma and pancreatic carcinoma reveals a snapshot of their genomic landscapes","volume":"30","author":"Bleeker","year":"2009","journal-title":"Hum Mutat"},{"issue":"2","key":"10.1016\/j.nmd.2026.107420_bib0014","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1002\/gcc.20180","article-title":"Genetic and epigenetic alterations of the candidate tumor-suppressor gene MYO18B, on chromosome arm 22q, in colorectal cancer","volume":"43","author":"Nakano","year":"2005","journal-title":"Genes Chromosomes Cancer"},{"issue":"19","key":"10.1016\/j.nmd.2026.107420_bib0015","doi-asserted-by":"crossref","first-page":"12269","DOI":"10.1073\/pnas.192445899","article-title":"MYO18B, a candidate tumor suppressor gene at chromosome 22q12.1, deleted, mutated, and methylated in human lung cancer","volume":"99","author":"Nishioka","year":"2002","journal-title":"Proc Natl Acad Sci U S A."},{"issue":"1","key":"10.1016\/j.nmd.2026.107420_bib0016","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1002\/ijc.20339","article-title":"Reduced expression of MYO18B, a candidate tumor-suppressor gene on chromosome arm 22q, in ovarian cancer","volume":"112","author":"Yanaihara","year":"2004","journal-title":"Int J Cancer"},{"issue":"6","key":"10.1016\/j.nmd.2026.107420_bib0017","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1177\/22143602241283391","article-title":"Taking on the Titin: muscle imaging as a diagnostic marker of biallelic TTN-related myopathy","volume":"11","author":"Hayes","year":"2024","journal-title":"J Neuromuscul Dis"},{"issue":"424","key":"10.1016\/j.nmd.2026.107420_bib0018","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1097\/01.blo.0000130267.49895.20","article-title":"Klippel-Feil syndrome: clinical features and current understanding of etiology","volume":"424","author":"Tracy","year":"2004","journal-title":"Clin Orthop Relat Res"},{"issue":"7","key":"10.1016\/j.nmd.2026.107420_bib0019","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1002\/acn3.51816","article-title":"Muscle magnetic resonance imaging involvement patterns in nemaline myopathies","volume":"10","author":"Perry","year":"2023","journal-title":"Ann Clin Transl Neurol"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896626010886?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896626010886?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T16:31:30Z","timestamp":1790008290000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896626010886"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,11]]},"references-count":19,"alternative-id":["S0960896626010886"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2026.107420","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2026,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Expanding the clinical and genetic spectrum of biallelic MYO18B pathogenic variants in congenital myopathy","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2026.107420","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"107420"}}