{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:43:09Z","timestamp":1760784189415},"reference-count":6,"publisher":"EDP Sciences","license":[{"start":{"date-parts":[[2016,11,21]],"date-time":"2016-11-21T00:00:00Z","timestamp":1479686400000},"content-version":"vor","delay-in-days":20,"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":[[2016,11]]},"abstract":"<jats:p>La maladie de Pompe est une maladie lysosomale avec atteinte musculaire pr\u00e9dominante. On distingue la forme s\u00e9v\u00e8re du nourrisson avec troubles cardiaques des formes tardives de l\u2019enfant, de l\u2019adolescent et de l\u2019adulte qui n\u2019ont en g\u00e9n\u00e9ral pas de manifestations cardiaques. L\u2019association d\u2019une maladie de Pompe et d\u2019un \u00ab\u00a0<jats:italic>rigid spine\u00a0<\/jats:italic>\u00bb a \u00e9t\u00e9 occasionnellement rapport\u00e9e. Plusieurs profils ont \u00e9t\u00e9 d\u00e9crits. La pr\u00e9sentation la plus fr\u00e9quente est un d\u00e9ficit des muscles des ceintures et du diaphragme. Une scoliose est rapport\u00e9e dans un tiers des patients, mais seulement 15\u00a0% associent une raideur spinale. L\u2019atteinte extra-musculaire, en particulier des sympt\u00f4mes cardio-c\u00e9r\u00e9brovasculaires sont observ\u00e9s dans un tiers des patients. L\u2019observation rapport\u00e9e ici pr\u00e9sente un tableau de myopathie avec un ph\u00e9notype typique de raideur spinale s\u00e9lective, associ\u00e9 \u00e0 une augmentation mod\u00e9r\u00e9e des enzymes musculaires, des signes myopathiques \u00e0 la biopsie, et une atteinte cardiaque.<\/jats:p>","DOI":"10.1051\/medsci\/201632s205","type":"journal-article","created":{"date-parts":[[2016,11,21]],"date-time":"2016-11-21T07:34:07Z","timestamp":1479713647000},"page":"14-16","source":"Crossref","is-referenced-by-count":1,"special_numbering":"Hors s\u00e9rie n\u00b02","title":["Orientation diagnostique d\u2019un cas de \u00ab\u00a0<i>Rigid spine<\/i>\u00a0\u00bb familial par IRM musculaire corps entier"],"prefix":"10.1051","volume":"32","author":[{"given":"Eliana","family":"Cavassa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mickael","family":"Tordjman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana","family":"Ferreiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Carlier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susana","family":"Quijano-Roy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"250","published-online":{"date-parts":[[2016,11,21]]},"reference":[{"key":"R1","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/j.nmd.2011.06.748","volume":"21","author":"Carlier","year":"2011","journal-title":"Neuromuscul Disord"},{"key":"R2","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.nmd.2006.02.001","volume":"16","author":"Kostera-Pruszczyk","year":"2006","journal-title":"Neuromuscul Disord"},{"key":"R3","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1016\/j.nmd.2009.11.006","volume":"20","author":"Lafor\u00eat","year":"2010","journal-title":"Neuromuscul Disord"},{"key":"R4","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1017\/S0317167100016760","volume":"41","author":"Panosyan","year":"2014","journal-title":"Can J Neurol Sci"},{"key":"R5","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1002\/ajmg.c.31322","volume":"160C","author":"Sch\u00fcller","year":"2012","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"suppl 2","key":"R6","doi-asserted-by":"crossref","first-page":"S68","DOI":"10.1016\/j.nmd.2012.08.003","volume":"22","author":"Quijano-Roy","year":"2012","journal-title":"Neuromuscul Disord"}],"container-title":["m\u00e9decine\/sciences"],"original-title":[],"link":[{"URL":"http:\/\/www.medecinesciences.org\/10.1051\/medsci\/201632s205\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,15]],"date-time":"2021-07-15T07:43:52Z","timestamp":1626335032000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.medecinesciences.org\/10.1051\/medsci\/201632s205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11]]},"references-count":6,"alternative-id":["medsci2016322sp14"],"URL":"https:\/\/doi.org\/10.1051\/medsci\/201632s205","relation":{},"ISSN":["0767-0974","1958-5381"],"issn-type":[{"value":"0767-0974","type":"print"},{"value":"1958-5381","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11]]}}}