{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T15:15:01Z","timestamp":1790781301455,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T00:00:00Z","timestamp":1769040000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T00:00:00Z","timestamp":1769040000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100005111","name":"Rigshospitalet","doi-asserted-by":"publisher","award":["E\u201022394\u201004"],"award-info":[{"award-number":["E\u201022394\u201004"]}],"id":[{"id":"10.13039\/501100005111","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Congenital myopathy\u201014 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in\n                    <jats:italic>MYL1<\/jats:italic>\n                    , with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal muscle consistent with all previously described patients. The patient carried a novel homozygous intron variant (c.479\u201025T&gt;C, p.(?)) in\n                    <jats:italic>MYL1<\/jats:italic>\n                    . RNA analysis of patient muscle demonstrated aberrant splicing, with inclusion of 19\u2009bp from intron 4 in most transcripts, resulting in a frameshift and premature stop codon, and in\u2010frame skipping of exons 4\u20135 in a minority of transcripts encompassing functional domains. In addition to core CMYO14 features, the patient presented with craniofacial anomalies not previously described. This case broadens the genotypic and phenotypic spectrum of\n                    <jats:italic>MYL1<\/jats:italic>\n                    \u2010related disease and underscores the diagnostic importance of intron variants, highlighting the value of combining in silico splice prediction with functional RNA analyses.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70059","type":"journal-article","created":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T10:02:18Z","timestamp":1769076138000},"page":"1378-1383","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel\n                    <i>MYL1<\/i>\n                    Intron Variant With Expanded Phenotype"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7440-679X","authenticated-orcid":false,"given":"Maria","family":"Barington","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Balslev\u2010Harder","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9330-668X","authenticated-orcid":false,"given":"Thomas","family":"Krag","sequence":"additional","affiliation":[{"name":"Copenhagen Neuromuscular Center, Department of Neurology Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"van Overeem Hansen","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"},{"name":"Department of Clinical Medicine University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camilla Bernt","family":"Wulff","sequence":"additional","affiliation":[{"name":"Department of Fetal Medicine Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrik","family":"Lausten\u2010Thomsen","sequence":"additional","affiliation":[{"name":"Department of Neonatology Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina Duelund","family":"Hjortsh\u00f8j","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elsebet","family":"\u00d8stergaard","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Copenhagen University Hospital  Copenhagen Denmark"},{"name":"Department of Clinical Medicine University of Copenhagen  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2310249"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2024.105261"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22677"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2017.191"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/nan.70025"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2016.08.002"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddy320"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10974\u2010019\u201009517\u2010x"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00317.2015"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.06.002"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2013.210658"}],"container-title":["American 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