{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T04:15:35Z","timestamp":1789704935216,"version":"4.0.1"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,1,5]],"date-time":"2025-01-05T00:00:00Z","timestamp":1736035200000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100013465","name":"French Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["25065"],"award-info":[{"award-number":["25065"]}],"id":[{"id":"10.13039\/100013465","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":[[2025,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>myotilinopathy is a very rare inherited muscle disease that belongs to the group of myofibrillar myopathies. These diseases share a common alteration of the sarcomere organization at the level of the Z disk resulting in pathological protein aggregation, autophagic abnormalities, and ultimately muscle degeneration. Most reported cases are due to dominant missense mutations in the <jats:italic>MYOT<\/jats:italic> gene, two of which are largely recurrent.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe the clinical, radiological, pathological, and molecular analysis including long\u2010read sequencing of a family affected by late\u2010onset dominant proximodistal myopathy and muscle hypertrophy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a duplication of the entire <jats:italic>MYOT<\/jats:italic> gene as the molecular cause of late\u2010onset\u2010myotilinopapthy with typical clinical and pathological features.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study expands the molecular spectrum of myotilinopathy and highlights the use of long\u2010read sequencing in the diagnosis of genetic neurological diseases caused by duplications and genomic structural variants. Myotilinopathy as well as other myofibrillar and distal myopathies should be considered in the differential diagnosis of patients affected by distal muscle weakness, even when presenting at an old age.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.70029","type":"journal-article","created":{"date-parts":[[2025,1,6]],"date-time":"2025-01-06T05:01:30Z","timestamp":1736139690000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Myotilin gene duplication causing late\u2010onset myotilinopathy"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0048-9558","authenticated-orcid":false,"given":"Marco","family":"Spinazzi","sequence":"first","affiliation":[{"name":"Neuromuscular Reference Center, Department of Neurology CHU d'ANGERS\/ INSERM U1083  Angers France"},{"name":"Neurobiology and Neuropathology Unit, Department of Pathology CHU d'Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2591-244X","authenticated-orcid":false,"given":"Marco","family":"Savarese","sequence":"additional","affiliation":[{"name":"Folkhalsan Research Center  Helsinki Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franck","family":"Letournel","sequence":"additional","affiliation":[{"name":"Neurobiology and Neuropathology Unit, Department of Pathology CHU d'Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lydia","family":"Sagath","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Research Institute for Medical Innovation Radboud University Medical Center  Nijmegen Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Manero","sequence":"additional","affiliation":[{"name":"SCIAM, SFR ICAT University of Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Guichet","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique CHU\u2014CNRS 6015\/INSERM U1083\u2014Universit\u00e9 d'Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Hoischen","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Research Institute for Medical Innovation Radboud University Medical Center  Nijmegen Netherlands"},{"name":"Department of Internal Medicine, Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI) Radboud University Medical Center  Nijmegen Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Metay","sequence":"additional","affiliation":[{"name":"APHP, GH Pitie\u2010Salpetriere, Molecular and Cellular Cardiogenetics and Myogenetics UF, Chromosomic and Molecular Genetic Center and INSERM UMRS 974 Institute of Myology  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Gouju","sequence":"additional","affiliation":[{"name":"Neurobiology and Neuropathology Unit, Department of Pathology CHU d'Angers  Angers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bjarne","family":"Udd","sequence":"additional","affiliation":[{"name":"Folkhalsan Research Center  Helsinki Finland"},{"name":"Tampere Neuromuscular Reference Center Tampere University Hospital  Tampere Finland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,1,5]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199605000-00008"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2015.06.002"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.12.007"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awh576"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.559327"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14413"},{"key":"e_1_2_8_8_1","volume-title":"Muscle Biopsy. 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