{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T15:13:44Z","timestamp":1783610024415,"version":"3.55.0"},"reference-count":11,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T00:00:00Z","timestamp":1783555200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T00:00:00Z","timestamp":1783555200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"abstract":"<jats:p>Diagnosing rare muscle diseases can be challenging due to their genetic heterogeneity. The French National Network for Rare Neuromuscular Diseases (FILNEMUS) has previously established a pioneering nationwide strategy based on gene lists organized in 13 phenotype-specific gene panels. We now revise these lists and add recently described genes. Using data collected from all FILNEMUS diagnostic laboratories, we also establish a \u201cMajor Muscle Genes\u201d panel that includes genes responsible for the most frequent genetic muscle diseases. The updated diagnostic strategy of the FILNEMUS network will help reduce the turn-around time for genetic results and facilitate rapid access to the French national genome sequencing platforms.<\/jats:p>","DOI":"10.1177\/22143602251400143","type":"journal-article","created":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T14:24:09Z","timestamp":1783607049000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing"],"prefix":"10.1177","author":[{"given":"Emmanuelle","family":"Pion","sequence":"first","affiliation":[{"name":"FILNEMUS, Fili\u00e8re Nationale des Maladies Rares Neuromusculaires"},{"name":"CHU de Montpellier"},{"name":"*Equal contribution."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mireille","family":"Coss\u00e9e","sequence":"additional","affiliation":[{"name":"CHU de Montpellier"},{"name":"PhyMedExp, Physiologie et M\u00e9decine Exp\u00e9rimentale du s\u0153ur et des Muscles, CNRS, INSERM, Universit\u00e9 de Montpellier, Montpellier, France"},{"name":"*Equal contribution."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Biancalana","sequence":"additional","affiliation":[{"name":"Laboratoire de Diagnostic G\u00e9n\u00e9tique CHRU de Strasbourg, Strasbourg, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile Acquaviva","family":"Bourdain","sequence":"additional","affiliation":[{"name":"Service de Biochimie et Biologie Mol\u00e9culaire, UM Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Centre de Biologie et de Pathologie Est, CHU de Lyon, Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Bouchet-Seraphin","sequence":"additional","affiliation":[{"name":", Hopital Bichat-Claude Bernard"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julien","family":"Faur\u00e9","sequence":"additional","affiliation":[{"name":"Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roseline","family":"Froissart","sequence":"additional","affiliation":[{"name":"Service de Biochimie et Biologie Mol\u00e9culaire, UM Maladies H\u00e9r\u00e9ditaires du M\u00e9tabolisme, Centre de Biologie et de Pathologie Est, CHU de Lyon, Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"France","family":"Leturcq","sequence":"additional","affiliation":[{"name":"Hopital Cochin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Menassa","sequence":"additional","affiliation":[{"name":"UM Pathologies Neurologiques, Musulaires et Cardiaques, Centre de Biologie et Pathologie Est, CHU de Lyon HCL, GH Est"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Metay","sequence":"additional","affiliation":[{"name":"Hopitaux Universitaire Piti\u00e9-Salp\u00e9tri\u00e8re, APHP"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Michel-Calemard","sequence":"additional","affiliation":[{"name":"UM Pathologies Neurologiques, Musulaires et Cardiaques, Centre de Biologie et Pathologie Est, CHU de Lyon HCL, GH Est"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Nectoux","sequence":"additional","affiliation":[{"name":"Hopital Cochin"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francois","family":"Petit","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Service de Biochimie et Hormonologie, Hopital Antoine B\u00e9cl\u00e8re, APHP"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Rendu","sequence":"additional","affiliation":[{"name":"Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Richard","sequence":"additional","affiliation":[{"name":"Hopitaux Universitaire Piti\u00e9-Salp\u00e9tri\u00e8re, APHP"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Sternberg","sequence":"additional","affiliation":[{"name":"Hopitaux Universitaires Piti\u00e9 Salp\u00e9tri\u00e8re, APHP"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Vuillaumier-Barrot","sequence":"additional","affiliation":[{"name":", Hopital Bichat-Claude Bernard"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles Van","family":"Goethem","sequence":"additional","affiliation":[{"name":"CHU de Montpellier"},{"name":"PhyMedExp, Physiologie et M\u00e9decine Exp\u00e9rimentale du s\u0153ur et des Muscles, CNRS, INSERM, Universit\u00e9 de Montpellier, Montpellier, France"},{"name":"Montpellier BioInFormatique pour le Diagnostic Clinque \u2013 MoBiDiC, CHU de Montpellier, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Th\u00e8ze","sequence":"additional","affiliation":[{"name":"CHU de Montpellier"},{"name":"PhyMedExp, Physiologie et M\u00e9decine Exp\u00e9rimentale du s\u0153ur et des Muscles, CNRS, INSERM, Universit\u00e9 de Montpellier, Montpellier, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahram","family":"Attarian","sequence":"additional","affiliation":[{"name":"H\u00f4pital la Timone, APHM"},{"name":"Marseille Medical Genetics"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Krahn","sequence":"additional","affiliation":[{"name":"Marseille Medical Genetics"},{"name":"Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France"},{"name":"*Equal contribution."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana","family":"Gorokhova","sequence":"additional","affiliation":[{"name":"Marseille Medical Genetics"},{"name":"Medical Genetics Department, Timone Children's Hospital, APHM, Marseille, France"},{"name":"*Equal contribution."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,7,9]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0305-1"},{"key":"e_1_3_3_3_2","unstructured":"SEQOIA. https:\/\/laboratoire-seqoia.fr\/. 2024."},{"key":"e_1_3_3_4_2","unstructured":"AURAGEN. https:\/\/www.auragen.fr\/. 2024."},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.3390\/genes13020318"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.06.020"},{"key":"e_1_3_3_7_2","unstructured":"ClinGen. https:\/\/clinicalgenome.org\/curation-activities\/gene-disease-validity\/."},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.04.015"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.04.017"},{"key":"e_1_3_3_10_2","unstructured":"FILNEMUS. https:\/\/www.filnemus.fr\/. 2024."},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2024.105261"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23158506"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602251400143","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/22143602251400143","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602251400143","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T14:24:10Z","timestamp":1783607050000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/22143602251400143"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,9]]},"references-count":11,"alternative-id":["10.1177\/22143602251400143"],"URL":"https:\/\/doi.org\/10.1177\/22143602251400143","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,9]]},"article-number":"22143602251400143"}}