{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T15:20:35Z","timestamp":1778858435358,"version":"3.51.4"},"reference-count":38,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T00:00:00Z","timestamp":1759190400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005189","name":"Estonian Research Competency Council","doi-asserted-by":"publisher","award":["PRG2040"],"award-info":[{"award-number":["PRG2040"]}],"id":[{"id":"10.13039\/501100005189","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005189","name":"Estonian Research Competency Council","doi-asserted-by":"publisher","award":["PRG471"],"award-info":[{"award-number":["PRG471"]}],"id":[{"id":"10.13039\/501100005189","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":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Purpose<\/jats:title>\n                    <jats:p>Titin is critical for sarcomere structure and function, and mutations in this gene cause titinopathies, a group of neuromuscular disorders. Muscle MRI is a key tool for diagnosing and understanding these conditions. This study aims to compare the muscle involvement patterns in two autosomal dominant, adult\u2010onset titinopathies: Tibial Muscular Dystrophy (TMD) and Hereditary Myopathy with Early Respiratory Failure (HMERF).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>In this multicenter, cross\u2010sectional study, lower limb MRI scans were analyzed for 17 patients with TMD and 15 with HMERF. Clinical and demographic data were collected from medical records. Muscle fat replacement was assessed using a modified Mercuri score for 30 muscles per patient. Two independent evaluators reviewed the images. Heatmaps were used to visualize asymmetry and patterns of fat replacement. Statistical analysis included Cliff's delta and random forests to distinguish muscle involvement between TMD and HMERF, and Spearman's rho to explore correlations between fat replacement and disease duration.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>HMERF showed extensive, severe fat replacement, particularly in muscles like the semitendinosus, obturator externus, and gluteus minimus, with distinct intramuscular patterns. In contrast, TMD presented more localized fat replacement, primarily affecting the tibialis anterior and extensor digitorum longus. Both conditions exhibited mixed patterns of muscle replacement and preservation. Random forests confirmed differential muscle involvement, and fat replacement correlated with disease duration more strongly in HMERF than in TMD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This systematic MRI analysis reveals distinct muscle involvement patterns in TMD and HMERF, providing insights into the differential progression of these titinopathies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ene.70348","type":"journal-article","created":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T11:10:17Z","timestamp":1759230617000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Different Lower Limb Muscle\n                    <scp>MRI<\/scp>\n                    Patterns in Autosomal Dominant Titinopathies"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5654-7791","authenticated-orcid":false,"given":"David","family":"G\u00f3mez\u2010Andr\u00e9s","sequence":"first","affiliation":[{"name":"Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Department of Pediatrics Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Costa\u2010Comellas","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Department of Pediatrics Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2941-7988","authenticated-orcid":false,"given":"Jordi","family":"D\u00edaz\u2010Manera","sequence":"additional","affiliation":[{"name":"The John Walton Muscular Dystrophy Research Center Newcastle University, Newcastle upon Tyne NHS Trust  Newcastle upon Tyne UK"},{"name":"Neuromuscular Disorders Laboratory Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en red en Enfermedades Raras (CIBERER)  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrin","family":"\u00d5unap","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Genetics and Personalized Medicine Clinic Tartu University Hospital  Tartu Estonia"},{"name":"Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, Faculty of Medicine University of Tartu  Tartu Estonia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mireia","family":"\u00c1lvarez\u2010Molinero","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Department of Pediatrics Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Urcuyo","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Department of Pediatrics Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2591-244X","authenticated-orcid":false,"given":"Marco","family":"Savarese","sequence":"additional","affiliation":[{"name":"Folkhalsan Research Center Helsinki University  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francina","family":"Munell","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Department of Pediatrics Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bjarne","family":"Udd","sequence":"additional","affiliation":[{"name":"Folkhalsan Research Center Helsinki University  Helsinki Finland"},{"name":"Tampere Neuromuscular Center University Hospital  Tampere Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,9,30]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/hh2301.100981"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.109.860171"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3233\/JND\u2010160158"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1155\/2010\/753675"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg\u20102023\u2010109473"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/342380"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.07.010"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1993.00540060044015"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600\u20100404.2004.00283.x"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10647"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010019\u201009187\u20102"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp\u20102012\u2010304728"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/s1090\u20103798(02)90617\u20103"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.24634"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2021.08.006"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btw313"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1037\/0033\u20102909.114.3.494"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25018"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1214\/08\u2010AOAS169"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1080\/07350015.1986.10509497"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.835099"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.add0455"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.80500"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvab328"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.52189"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0163493"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000324927.28817.9b"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010020\u201009862\u20109"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00330\u2010008\u20101071\u20101"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000590"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415\u2010011\u20106357\u20106"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2018.00456"},{"key":"e_1_2_9_34_1","first-page":"239","volume-title":"Handbook of Clinical Neurology","author":"Udd B.","year":"2011"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51816"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm094"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.25241"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1177\/22143602241283391"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms252312994"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.70348","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T18:37:52Z","timestamp":1761763072000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.70348"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,30]]},"references-count":38,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1111\/ene.70348"],"URL":"https:\/\/doi.org\/10.1111\/ene.70348","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,30]]},"assertion":[{"value":"2024-11-05","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-20","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-09-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70348"}}