{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T09:19:49Z","timestamp":1790759989144,"version":"4.1.0"},"reference-count":49,"publisher":"EDP Sciences","license":[{"start":{"date-parts":[[2021,1,11]],"date-time":"2021-01-11T00:00:00Z","timestamp":1610323200000},"content-version":"vor","delay-in-days":41,"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":[[2020,12]]},"abstract":"<jats:p>Les sarcoglycanopathies font partie des dystrophies musculaires des ceintures (LGMD) autosomiques r\u00e9cessives et repr\u00e9sentent la troisi\u00e8me cause la plus fr\u00e9quente d\u2019entre elles. Elles sont cons\u00e9cutives \u00e0 un d\u00e9ficit d\u2019un des sarcoglycanes \u03b1, \u03b2, \u03b3, ou \u03b4. La pr\u00e9sentation clinique habituelle est celle d\u2019une atteinte sym\u00e9trique des muscles des ceintures pelvienne et scapulaire ainsi que du tronc, associ\u00e9e \u00e0 une atteinte cardiorespiratoire plus ou moins s\u00e9v\u00e8re et une \u00e9l\u00e9vation franche des cr\u00e9atine-phospho-kinases (CPK). Les premiers sympt\u00f4mes apparaissent au cours de la premi\u00e8re d\u00e9cennie, la perte de la marche survenant souvent au cours de la deuxi\u00e8me d\u00e9cennie. Les l\u00e9sions sont de type dystrophique sur la biopsie musculaire. Il s\u2019y associe une diminution ou une absence d\u2019immunomarquage du sarcoglycane correspondant au g\u00e8ne mut\u00e9, et dans une moindre mesure des trois autres sarcoglycanes associ\u00e9s. De nombreuses mutations ont \u00e9t\u00e9 rapport\u00e9es dans les quatre g\u00e8nes impliqu\u00e9s et quelques-unes d\u2019entre elles sont pr\u00e9pond\u00e9rantes dans certaines populations. \u00e0 ce jour, il n\u2019existe pas de traitement curatif ce qui n\u2019emp\u00eache pas de voir se d\u00e9velopper de nombreux essais cliniques, notamment en th\u00e9rapie g\u00e9nique.<\/jats:p>","DOI":"10.1051\/medsci\/2020243","type":"journal-article","created":{"date-parts":[[2021,1,11]],"date-time":"2021-01-11T05:18:03Z","timestamp":1610342283000},"page":"22-27","source":"Crossref","is-referenced-by-count":6,"special_numbering":"Hors s\u00e9rie n\u00b0 2","title":["Les sarcoglycanopathies"],"prefix":"10.1051","volume":"36","author":[{"given":"Gorka","family":"Fern\u00e1ndez-Eulate","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"France","family":"Leturcq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Lafor\u00eat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Richard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Stojkovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"250","published-online":{"date-parts":[[2021,1,11]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1056\/NEJM199702273360904","volume":"336","author":"Duggan","year":"1997","journal-title":"N Engl J Med"},{"key":"R2","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1002\/cphy.c140048","volume":"5","author":"Gao","year":"2015","journal-title":"Compr Physiol"},{"key":"R3","first-page":"1","volume":"33","author":"Nigro","year":"2014","journal-title":"Acta Myol"},{"key":"R4","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1002\/ana.20661","volume":"58","author":"Asmus","year":"2005","journal-title":"Ann Neurol"},{"key":"R5","doi-asserted-by":"crossref","first-page":"1424","DOI":"10.1001\/jamaneurol.2015.2274","volume":"72","author":"Ghaoui","year":"2015","journal-title":"JAMA Neurol"},{"key":"R6","doi-asserted-by":"crossref","first-page":"2512","DOI":"10.1038\/s41436-019-0544-8","volume":"21","author":"Liu","year":"2019","journal-title":"Genet Med"},{"key":"R7","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1038\/ejhg.2008.9","volume":"16","author":"Trabelsi","year":"2008","journal-title":"Eur J Hum Genet"},{"key":"R8","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/mus.25443","volume":"56","author":"Dalichaouche","year":"2017","journal-title":"Muscle and Nerve"},{"key":"R9","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1080\/01677063.2017.1346093","volume":"31","author":"Alavi","year":"2017","journal-title":"J Neurogenet"},{"key":"R10","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1097\/01.jnen.0000235854.77716.6c","volume":"65","author":"Moore","year":"2006","journal-title":"J Neuropathol Exp Neurol"},{"key":"R11","doi-asserted-by":"crossref","unstructured":"Alonso-P\u00e9rez J, Gonz\u00e1lez-Quereda L, Bello L, et al. 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