{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,11]],"date-time":"2024-07-11T18:48:54Z","timestamp":1720723734265},"reference-count":0,"publisher":"EDP Sciences","license":[{"start":{"date-parts":[[2019,12,20]],"date-time":"2019-12-20T00:00:00Z","timestamp":1576800000000},"content-version":"vor","delay-in-days":49,"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":[[2019,11]]},"abstract":"<jats:p>Les myopathies cong\u00e9nitales constituent un ensemble h\u00e9t\u00e9rog\u00e8ne de maladies neuromusculaires aussi bien sur le plan clinique que g\u00e9n\u00e9tique. Le s\u00e9quen\u00e7age \u00e0 haut d\u00e9bit, cibl\u00e9 ou non, coupl\u00e9 \u00e0 l\u2019analyse de la biopsie musculaire, facilite grandement leur caract\u00e9risation pr\u00e9cise et conduisent parfois \u00e0 des d\u00e9couvertes inattendues comme dans le cas rapport\u00e9 ci-dessous d\u2019une famille koweitienne en errance diagnostique depuis de nombreuses ann\u00e9es.<\/jats:p>","DOI":"10.1051\/medsci\/2019237","type":"journal-article","created":{"date-parts":[[2019,12,20]],"date-time":"2019-12-20T09:02:39Z","timestamp":1576832559000},"page":"15-17","source":"Crossref","is-referenced-by-count":1,"special_numbering":"Hors s\u00e9rie n\u00b0 2","title":["Quand tous les chemins m\u00e8nent \u00e0 l\u2019Afrique\u2026"],"prefix":"10.1051","volume":"35","author":[{"given":"J. Andoni","family":"Urtizberea","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hadil","family":"Alrohaif","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sayed A.","family":"Gouda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laila","family":"Bastaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2019,12,20]]},"container-title":["m\u00e9decine\/sciences"],"original-title":[],"link":[{"URL":"https:\/\/www.medecinesciences.org\/10.1051\/medsci\/2019237\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,3,19]],"date-time":"2020-03-19T19:49:33Z","timestamp":1584647373000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.medecinesciences.org\/10.1051\/medsci\/2019237"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,11]]},"references-count":0,"alternative-id":["medsci190237s"],"URL":"https:\/\/doi.org\/10.1051\/medsci\/2019237","relation":{},"ISSN":["0767-0974","1958-5381"],"issn-type":[{"value":"0767-0974","type":"print"},{"value":"1958-5381","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,11]]}}}