{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T03:01:26Z","timestamp":1772247686903,"version":"3.50.1"},"reference-count":20,"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 calpa\u00efnopathies sont des dystrophies musculaires des ceintures h\u00e9r\u00e9ditaires, le plus souvent avec une transmission autosomique r\u00e9cessive (AR). Des formes autosomiques dominantes (AD) de pr\u00e9sentation moins s\u00e9v\u00e8re sont de plus en plus rapport\u00e9es. Les calpa\u00efnopathies avec mutations autosomiques r\u00e9cessives du g\u00e8ne de la calpa\u00efne 3<jats:italic>(CAPN3)<\/jats:italic>sont associ\u00e9es \u00e0 la dystrophie musculaire des ceintures de type R1 (OMIM 253600) ou LGMD-2A, selon l\u2019ancienne nomenclature. La LGMD-R1 est la plus fr\u00e9quente de toutes les formes de LGMD, sa pr\u00e9valence \u00e9tant estim\u00e9e entre 10 et 70 cas par million d\u2019habitants. Il existerait ainsi entre 670 et 4\u2009200 patients atteints de LGMD-R1 en France. Les patients pr\u00e9sentent une myopathie proximale sym\u00e9trique et axiale se manifestant entre la premi\u00e8re et la deuxi\u00e8me d\u00e9cennie. L\u2019\u00e9volution est variable. Le taux de Cr\u00e9atine-Phospho-Kinase s\u00e9rique est \u00e9lev\u00e9 et il n\u2019y a pas d\u2019atteinte cardiaque. Au niveau th\u00e9rapeutique, la forme autosomique r\u00e9cessive de calpa\u00efnopathie se pr\u00eate \u00e0 des strat\u00e9gies de remplacement de g\u00e8ne. La viabilit\u00e9 d\u2019un transfert de calpa\u00efne 3 m\u00e9di\u00e9 par un AAV recombinant a \u00e9t\u00e9 d\u00e9montr\u00e9e dans des mod\u00e8les animaux et un passage en clinique est attendu dans les prochaines ann\u00e9es. En attendant, des \u00e9tudes d\u2019histoire naturelle sont n\u00e9cessaires afin de pr\u00e9parer les futurs essais cliniques.<\/jats:p>","DOI":"10.1051\/medsci\/2020244","type":"journal-article","created":{"date-parts":[[2021,1,11]],"date-time":"2021-01-11T10:18:03Z","timestamp":1610360283000},"page":"17-21","source":"Crossref","is-referenced-by-count":9,"special_numbering":"Hors s\u00e9rie n\u00b0 2","title":["Calpa\u00efnopathies"],"prefix":"10.1051","volume":"36","author":[{"given":"Edoardo","family":"Malfatti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Richard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2021,1,11]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/0092-8674(95)90368-2","volume":"81","author":"Richard","year":"1995","journal-title":"Cell"},{"key":"R2","doi-asserted-by":"crossref","first-page":"3427","DOI":"10.1111\/j.1742-4658.2006.05351.x","volume":"273","author":"Duguez","year":"2006","journal-title":"FEBS J"},{"key":"R3","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1006\/abbi.1997.0108","volume":"342","author":"Kinbara","year":"1997","journal-title":"Arch Biochem Biophys"},{"key":"R4","doi-asserted-by":"crossref","first-page":"31158","DOI":"10.1074\/jbc.270.52.31158","volume":"270","author":"Sorimachi","year":"1995","journal-title":"J Biol Chem"},{"key":"R5","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1093\/brain\/119.1.295","volume":"119","author":"Fardeau","year":"1996","journal-title":"Brain"},{"key":"R6","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/0960-8966(93)E0006-G","volume":"5","author":"Bushby","year":"1995","journal-title":"Neuromuscul Disord"},{"key":"R7","doi-asserted-by":"crossref","unstructured":"Straub V, Murphy A, Udd B, group Lws. 229thENMC international workshop: limb girdle muscular dystrophies. 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