{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T18:17:48Z","timestamp":1720721868342},"reference-count":15,"publisher":"EDP Sciences","license":[{"start":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T00:00:00Z","timestamp":1700179200000},"content-version":"vor","delay-in-days":16,"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":[[2023,11]]},"abstract":"<jats:p>Les syndromes myasth\u00e9niques cong\u00e9nitaux (SMC) sont des affections g\u00e9n\u00e9tiquement et ph\u00e9notypiquement tr\u00e8s h\u00e9t\u00e9rog\u00e8nes responsables d\u2019un d\u00e9ficit de la transmission neuromusculaire. Les formes dites post-synaptiques sont les plus fr\u00e9quentes des SMC, et parmi elles, le d\u00e9ficit en r\u00e9cepteur \u00e0 l\u2019ac\u00e9tylcholine (<jats:italic>low expressor<\/jats:italic>) est le m\u00e9canisme physiopathologique le plus souvent en cause.  Les SMC avec anomalies cin\u00e9tiques du r\u00e9cepteur \u00e0 l\u2019ac\u00e9tylcholine sont beaucoup plus rares et \u00e0 l\u2019origine de tableaux cliniques \u00e0 l\u2019issue parfois dramatique. On en d\u00e9nombre deux types\u00a0: le syndrome du canal lent et le syndrome du canal rapide. Leur diagnostic et leur prise en charge th\u00e9rapeutique sont sp\u00e9cifiques \u00e0 chaque type.  Dans ce travail, nous d\u00e9taillerons leurs aspects ph\u00e9notypiques respectifs en les illustrant par les observations de trois familles alg\u00e9riennes.<\/jats:p>","DOI":"10.1051\/medsci\/2023135","type":"journal-article","created":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T09:09:40Z","timestamp":1700212180000},"page":"58-63","source":"Crossref","is-referenced-by-count":0,"special_numbering":"Hors s\u00e9rie n\u00b0 1","title":["Les syndromes myasth\u00e9niques cong\u00e9nitaux avec anomalies cin\u00e9tiques du\u00a0r\u00e9cepteur \u00e0\u00a0l\u2019ac\u00e9tylcholine"],"prefix":"10.1051","volume":"39","author":[{"given":"Mohamed","family":"Islam Kediha","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meriem","family":"Tazir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Damien","family":"Sternberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Eymard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lamia","family":"Ali Pacha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2023,11,17]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","first-page":"3730","DOI":"10.3390\/ijms24043730","volume":"24","author":"Ohno","year":"2023","journal-title":"Int J Mol Sci"},{"key":"R2","doi-asserted-by":"crossref","first-page":"1967","DOI":"10.1212\/01.wnl.0000336921.51639.0b","volume":"71","author":"Richard","year":"2008","journal-title":"Neurology"},{"key":"R3","doi-asserted-by":"crossref","first-page":"2234","DOI":"10.1007\/s00415-014-7520-7","volume":"261","author":"Rodr\u00edguez Cruz PM","year":"2014","journal-title":"J Neurol"},{"key":"R4","first-page":"284","volume":"24","author":"Gomez","year":"1998","journal-title":"Soc Neurosci Abstr"},{"key":"R5","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/mus.23534","volume":"47","author":"Finlayson","year":"2013","journal-title":"Muscle Nerve"},{"key":"R6","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1007\/s00415-011-6204-9","volume":"259","author":"Chaouch","year":"2012","journal-title":"J Neurol"},{"key":"R7","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1002\/ana.10077","volume":"51","author":"Gomez","year":"2002","journal-title":"Ann Neurol"},{"key":"R8","first-page":"294","volume":"72","author":"Croxen","year":"2002","journal-title":"Neurology"},{"key":"R9","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S0896-6273(00)80289-5","volume":"17","author":"Ohno","year":"1996","journal-title":"Neuron"},{"key":"R10","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1038\/6326","volume":"2","author":"Wang","year":"1999","journal-title":"Nat Neurosci"},{"key":"R11","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1212\/WNL.0b013e31825b5bda","volume":"79","author":"Shen","year":"2012","journal-title":"Neurology"},{"key":"R12","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.nmd.2011.08.002","volume":"22","author":"Palace","year":"2012","journal-title":"Neuromuscul Disord"},{"key":"R13","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1006\/jaut.1996.0021","volume":"9","author":"Heckmann","year":"1996","journal-title":"J Autoimmun"},{"key":"R14","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1038\/sj.gene.6364041","volume":"5","author":"Giraud","year":"2004","journal-title":"Genes Immun"},{"key":"R15","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1016\/j.nmd.2015.08.001","volume":"25","author":"Santos","year":"2015","journal-title":"Neuromuscul Disord"}],"container-title":["m\u00e9decine\/sciences"],"original-title":[],"link":[{"URL":"https:\/\/www.medecinesciences.org\/10.1051\/medsci\/2023135\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,17]],"date-time":"2023-11-17T09:12:10Z","timestamp":1700212330000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.medecinesciences.org\/10.1051\/medsci\/2023135"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11]]},"references-count":15,"alternative-id":["medsci230135s"],"URL":"https:\/\/doi.org\/10.1051\/medsci\/2023135","relation":{},"ISSN":["0767-0974","1958-5381"],"issn-type":[{"value":"0767-0974","type":"print"},{"value":"1958-5381","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11]]}}}