{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T04:37:36Z","timestamp":1764131856554,"version":"3.28.0"},"reference-count":25,"publisher":"EDP Sciences","license":[{"start":{"date-parts":[[2024,11,18]],"date-time":"2024-11-18T00:00:00Z","timestamp":1731888000000},"content-version":"vor","delay-in-days":17,"URL":"https:\/\/www.edpsciences.org\/en\/authors\/copyright-and-licensing"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Med Sci (Paris)"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:p>La dystrophie musculaire de Duchenne (DMD) est une maladie musculaire g\u00e9n\u00e9tique d\u00e9g\u00e9n\u00e9rative s\u00e9v\u00e8re affectant principalement les jeunes gar\u00e7ons, caract\u00e9ris\u00e9e par une alt\u00e9ration significative ou une absence d\u2019expression de la dystrophine. Des avanc\u00e9es significatives ont \u00e9t\u00e9 r\u00e9alis\u00e9es dans la compr\u00e9hension et le traitement de la DMD, notamment avec l\u2019autorisation r\u00e9cente de la premi\u00e8re th\u00e9rapie g\u00e9nique utilisant un vecteur ad\u00e9no-associ\u00e9 recombinant (AAVr) pour d\u00e9livrer une forme raccourcie de la dystrophine (microdystrophine). Malgr\u00e9 ces progr\u00e8s, des d\u00e9fis majeurs persistent pour am\u00e9liorer les r\u00e9sultats th\u00e9rapeutiques. L\u2019utilisation des vecteurs AAVr est entrav\u00e9e par des limitations majeures, notamment les risques d\u2019immunotoxicit\u00e9 et d\u2019h\u00e9patotoxicit\u00e9 associ\u00e9s aux hautes doses inject\u00e9es. De plus, la microdystrophine pr\u00e9sente des limites fonctionnelles intrins\u00e8ques ainsi que des risques immunologiques. Cet article examine ces d\u00e9fis et explore les perspectives d\u2019am\u00e9lioration de la th\u00e9rapie g\u00e9nique pour la DMD.<\/jats:p>","DOI":"10.1051\/medsci\/2024138","type":"journal-article","created":{"date-parts":[[2024,11,18]],"date-time":"2024-11-18T08:51:13Z","timestamp":1731919873000},"page":"46-51","source":"Crossref","is-referenced-by-count":1,"special_numbering":"Hors s\u00e9rie n\u00b0 1","title":["La microdystrophine pour le traitement de la dystrophie musculaire de Duchenne"],"prefix":"10.1051","volume":"40","author":[{"given":"Abbass","family":"Jaber","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Palmieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelyne","family":"Gicquel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Richard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Israeli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2024,11,18]]},"reference":[{"issue":"1","key":"R1","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/s41572-021-00248-3","volume":"7","author":"Duan","year":"2021","journal-title":"Nat Rev Dis Primers"},{"key":"R2","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1152\/physrev.00007.2015","volume":"96","author":"Allen","year":"2016","journal-title":"Physiol Rev"},{"issue":"3","key":"R3","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1016\/S1474-4422(18)30024-3","volume":"17","author":"Birnkrant","year":"2018","journal-title":"Lancet Neurol"},{"issue":"2","key":"R4","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1111\/dmcn.13590","volume":"60","author":"Schreiber","year":"2018","journal-title":"Dev Med Child Neurol"},{"key":"R5","doi-asserted-by":"crossref","first-page":"778","DOI":"10.3390\/pharmaceutics15030778","volume":"15","author":"Wilton-Clark","year":"2023","journal-title":"Pharmaceutics"},{"key":"R6","doi-asserted-by":"crossref","first-page":"S102","DOI":"10.1016\/j.nmd.2022.07.248","volume":"32","author":"Iannaccone","year":"2022","journal-title":"Neuromuscul Disord"},{"key":"R7","doi-asserted-by":"crossref","first-page":"S23","DOI":"10.1016\/S0960-8966(02)00078-0","volume":"12","author":"Scott","year":"2002","journal-title":"Neuromuscular Disorders"},{"key":"R8","doi-asserted-by":"crossref","first-page":"16105","DOI":"10.1038\/ncomms16105","volume":"8","author":"Le Guiner","year":"2017","journal-title":"Nat Commun"},{"key":"R9","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/j.nmd.2024.04.004","volume":"39","author":"Davies","year":"2024","journal-title":"Neuromuscul Disord"},{"issue":"8","key":"R10","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1038\/d41573-023-00103-y","volume":"22","author":"Mullard","year":"2023","journal-title":"Nat Rev Drug Discov"},{"issue":"20","key":"R11","doi-asserted-by":"crossref","first-page":"1705","DOI":"10.1001\/jama.2024.5613","volume":"331","author":"Rind","year":"2024","journal-title":"JAMA"},{"issue":"677","key":"R12","doi-asserted-by":"crossref","first-page":"eabo1815","DOI":"10.1126\/scitranslmed.abo1815","volume":"15","author":"Birch","year":"2023","journal-title":"Sci Transl Med"},{"issue":"3","key":"R13","doi-asserted-by":"crossref","first-page":"624","DOI":"10.1172\/JCI36612","volume":"119","author":"Lai","year":"2009","journal-title":"J Clin Invest"},{"issue":"2","key":"R14","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/j.bbamem.2013.08.023","volume":"1838","author":"Constantin","year":"2014","journal-title":"Biochim Biophys Acta"},{"issue":"8","key":"R15","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1093\/hmg\/4.8.1251","volume":"4","author":"Phelps","year":"1995","journal-title":"Hum Mol Genet"},{"issue":"8","key":"R16","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1093\/hmg\/4.8.1245","volume":"4","author":"Wells","year":"1995","journal-title":"Hum Mol Genet"},{"issue":"3","key":"R17","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1086\/595830","volume":"199","author":"Calcedo","year":"2009","journal-title":"J Infect Dis"},{"issue":"24","key":"R18","doi-asserted-by":"crossref","first-page":"2294","DOI":"10.1056\/NEJMc2212912","volume":"388","author":"B\u00f6nnemann","year":"2023","journal-title":"N Engl J Med"},{"issue":"19","key":"R19","doi-asserted-by":"crossref","first-page":"4919","DOI":"10.1016\/j.cell.2021.08.028","volume":"184","author":"Tabebordbar","year":"2021","journal-title":"Cell"},{"key":"R20","doi-asserted-by":"crossref","unstructured":"Hong AV, Suel L, Poupiot J, et al. 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