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Cette \u00e9tude, men\u00e9e dans le cadre du projet de recherche MYOCAPTURE, visait \u00e0 identifier de nouvelles mutations et g\u00e8nes en analysant l\u2019exome de 310 familles atteintes de myopathies cong\u00e9nitales non \u00e9tiquet\u00e9es. Un diagnostic g\u00e9n\u00e9tique a pu \u00eatre \u00e9tabli pour 123 familles (40 %). Parmi les cas diagnostiqu\u00e9s, seuls 44 (36 %) pr\u00e9sentaient des mutations dans un g\u00e8ne connu, associ\u00e9 \u00e0 un ph\u00e9notype classique. Cinquante-cinq familles (44 %) pr\u00e9sentaient des mutations dans des g\u00e8nes connus, associ\u00e9s \u00e0 des ph\u00e9notypes atypiques. Et pour 20 %, nous avons mis en \u00e9vidence l\u2019implication de 14 nouveaux g\u00e8nes. Cette \u00e9tude souligne la pertinence du s\u00e9quen\u00e7age haut d\u00e9bit non cibl\u00e9 pour le diagnostic des myopathies cong\u00e9nitales et am\u00e9liore leur prise en charge.<\/jats:p>","DOI":"10.1051\/medsci\/2025180","type":"journal-article","created":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T08:52:58Z","timestamp":1764319978000},"page":"64-70","source":"Crossref","is-referenced-by-count":0,"special_numbering":"Hors s\u00e9rie n\u00b0 2","title":["Le projet MYOCAPTURE : \u00e0 la capture des bases g\u00e9n\u00e9tiques m\u00e9connues des myopathies cong\u00e9nitales"],"prefix":"10.1051","volume":"41","author":[{"given":"Yvan","family":"de Feraudy","sequence":"first","affiliation":[{"name":"IGBMC, Inserm U1258, Cnrs UMR7104, Universit\u00e9 de Strasbourg","place":["France"]},{"name":"Centre de r\u00e9f\u00e9rence neuromusculaire du CHU Hautepierre","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jocelyn","family":"Laporte","sequence":"additional","affiliation":[{"name":"IGBMC, Inserm U1258, Cnrs UMR7104, Universit\u00e9 de Strasbourg","place":["France"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2025,11,28]]},"reference":[{"issue":"1","key":"R1","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1186\/s13052-017-0419-z","volume":"43","author":"Cassandrini","year":"2017","journal-title":"Ital. 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