{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T21:03:21Z","timestamp":1773003801407,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T00:00:00Z","timestamp":1771286400000},"content-version":"vor","delay-in-days":16,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["101080874"],"award-info":[{"award-number":["101080874"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Research Council of Finland","doi-asserted-by":"publisher","award":["339437"],"award-info":[{"award-number":["339437"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Research Council of Finland","doi-asserted-by":"publisher","award":["346209"],"award-info":[{"award-number":["346209"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002341","name":"Research Council of Finland","doi-asserted-by":"publisher","award":["361979"],"award-info":[{"award-number":["361979"]}],"id":[{"id":"10.13039\/501100002341","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004810","name":"Samfundet Folkh\u00e4lsan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004810","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006306","name":"Sigrid Jus\u00e9liuksen S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","award":["230217"],"award-info":[{"award-number":["230217"]}],"id":[{"id":"10.13039\/501100006306","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003125","name":"Suomen Kulttuurirahasto","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003125","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010600","name":"Tays","doi-asserted-by":"publisher","award":["T67774"],"award-info":[{"award-number":["T67774"]}],"id":[{"id":"10.13039\/501100010600","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Axial myopathies present with late onset selective paravertebral weakness causing bent spine\/camptocormia or dropped head, and the genetic basis remains currently only partially understood. Truncating variants in\n                      <jats:italic>TTN<\/jats:italic>\n                      (TTNtv) are found in about 1% of the general population and, when biallelic, cause recessive titinopathies. Also, TTNtv located in cardiac exons are known to confer an increased risk of cardiomyopathy, with incomplete penetrance.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We retrospectively analyzed 55 Finnish adults with late\u2010onset axial myopathy evaluated at the Tampere Neuromuscular Center (2015\u20132025). Clinical, imaging, and histopathological data were collected, and genetic testing was performed using the MYOcap targeted next\u2010generation sequencing panel.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Heterozygous TTNtv were identified in 9 of 55 patients (16%), representing a significant enrichment compared with the general population (odds ratio\u2009=\u200914.1;\n                      <jats:italic>p<\/jats:italic>\n                      \u22485\u2009\u00d7\u200910\n                      <jats:sup>\u22128<\/jats:sup>\n                      ). The variants were ultra\u2010rare, distributed across different exons expressed in skeletal muscle, and five were absent from gnomAD. Mean age at onset was 60\u2009\u00b1\u200911\u2009years; six patients were female, and five reported a positive family history. Camptocormia was the main presentation, with muscle MRI showing a consistent fatty\u2010fibrous replacement of paravertebral muscles in all cases. Muscle biopsies revealed either myopathic or myofibrillar changes without a uniform pattern.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Heterozygous TTNtv are significantly enriched in patients with late\u2010onset axial myopathy, suggesting a potential contribution to this phenotype. These findings broaden the clinical spectrum of titin\u2010related diseases and support inclusion of\n                      <jats:italic>TTN<\/jats:italic>\n                      in genetic testing for idiopathic axial myopathies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.70537","type":"journal-article","created":{"date-parts":[[2026,2,17]],"date-time":"2026-02-17T13:44:27Z","timestamp":1771335867000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Over\u2010Representation of\n                    <i>TTN<\/i>\n                    Truncating Variants in a Finnish Cohort of Patients With Axial Myopathy"],"prefix":"10.1111","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4090-9521","authenticated-orcid":false,"given":"Maria Francesca","family":"Di Feo","sequence":"first","affiliation":[{"name":"Folkh\u00e4lsan Research Center  Helsinki Finland"},{"name":"University of Helsinki  Helsinki Finland"},{"name":"Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI) University of Genoa  Genova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giuliana","family":"Capece","sequence":"additional","affiliation":[{"name":"Department of Neuroscience DNS University of Padova  Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Savarese","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Research Center  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1101-9730","authenticated-orcid":false,"given":"Bjarne","family":"Udd","sequence":"additional","affiliation":[{"name":"Folkh\u00e4lsan Research Center  Helsinki Finland"},{"name":"Neuromuscular Research Center Tampere University and University Hospital  Tampere Finland"},{"name":"Vasa Central Hospital  Ostrobothnia Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7568-4684","authenticated-orcid":false,"given":"Manu","family":"Jokela","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center Tampere University and University Hospital  Tampere Finland"},{"name":"Clinical Neurosciences University of Turku  Turku Finland"},{"name":"Neurocenter Turku University Hospital  Turku Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanna","family":"Palmio","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center Tampere University and University Hospital  Tampere Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,2,17]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awv332"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000010327"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010012\u20106817\u20107"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/CPJ.0000000000000453"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg\u20102022\u2010109018"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/hummu.23938"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchf.2023.10.010"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2015.10.003"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.52189"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbspin.2010.05.012"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24689"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010002\u20100701\u20109"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0145284"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/BRS.0000000000003060"},{"key":"e_1_2_12_16_1","first-page":"S78","volume-title":"XXV National Congress of Italian Association of Myology (AIM)","author":"Cassandrini D. 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