{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T14:11:57Z","timestamp":1791987117196,"version":"4.4.0"},"reference-count":10,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,8,8]],"date-time":"2023-08-08T00:00:00Z","timestamp":1691452800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Missense mutations in\n                    <jats:italic>MYOT<\/jats:italic>\n                    encoding the sarcomeric Z\u2010disk protein myotilin cause three main myopathic phenotypes including proximal limb\u2010girdle muscular dystrophy, spheroid body myopathy, and late\u2010onset distal myopathy. We describe a family carrying a heterozygous\n                    <jats:italic>MYOT<\/jats:italic>\n                    deletion (Tyr4_His9del) that clinically was characterized by an early\u2010adult onset distal muscle weakness and pathologically by a myofibrillar myopathy (MFM). Molecular modeling of the full\u2010length myotilin protein revealed that the 4\u2010YERPKH\u20109 amino acids are involved in local interactions within the N\u2010terminal portion of myotilin. Injection of in vitro synthetized mutated human\n                    <jats:italic>MYOT<\/jats:italic>\n                    RNA or of plasmid carrying its cDNA sequence in zebrafish embryos led to muscle defects characterized by sarcomeric disorganization of muscle fibers and widening of the I\u2010band, and severe motor impairments. We identify\n                    <jats:italic>MYOT<\/jats:italic>\n                    novel Tyr4_His9 deletion as the cause of an early\u2010onset MFM with a distal myopathy phenotype and provide data supporting the importance of the amino acid sequence for the structural role of myotilin in the sarcomeric organization of myofibers.\n                  <\/jats:p>","DOI":"10.1111\/cge.14413","type":"journal-article","created":{"date-parts":[[2023,8,8]],"date-time":"2023-08-08T21:30:35Z","timestamp":1691530235000},"page":"705-710","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["A novel in\u2010frame deletion in\n                    <i>MYOT<\/i>\n                    causes an early adult onset distal myopathy"],"prefix":"10.1111","volume":"104","author":[{"given":"Valeria","family":"Guglielmi","sequence":"first","affiliation":[{"name":"Department of Neurosciences, Biomedicine and Movement Sciences University of Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elia","family":"Pancheri","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Biomedicine and Movement Sciences University of Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Cannone","sequence":"additional","affiliation":[{"name":"Department of Molecular and Translational Medicine, Division of Biology and Genetics University of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine University of Campania \u201cLuigi Vanvitelli\u201d  Napoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Malatesta","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Biomedicine and Movement Sciences University of Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4958-0619","authenticated-orcid":false,"given":"Andrea","family":"Vettori","sequence":"additional","affiliation":[{"name":"Department of Biotechnology University of Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Giorgetti","sequence":"additional","affiliation":[{"name":"Department of Biotechnology University of Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalaura","family":"Torella","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine University of Campania \u201cLuigi Vanvitelli\u201d  Napoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Aurino","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine University of Campania \u201cLuigi Vanvitelli\u201d  Napoli 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Sciences University of Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Schiavone","sequence":"additional","affiliation":[{"name":"Department of Molecular and Translational Medicine, Division of Biology and Genetics University of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3412-8339","authenticated-orcid":false,"given":"Gaetano","family":"Vattemi","sequence":"additional","affiliation":[{"name":"Department of Neurosciences, Biomedicine and Movement Sciences University of Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,8,8]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000123576.74801.75"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh576"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.5772\/50110"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.05.007"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-014-0410-4"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND-150143"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1373\/clinchem.2011.168898"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-014-0100-3"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13353-018-0463-4"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-5953-9"}],"container-title":["Clinical 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