{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T04:11:01Z","timestamp":1777867861531,"version":"3.51.4"},"reference-count":0,"publisher":"S. Karger AG","license":[{"start":{"date-parts":[[2008,1,29]],"date-time":"2008-01-29T00:00:00Z","timestamp":1201564800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2008,1,29]],"date-time":"2008-01-29T00:00:00Z","timestamp":1201564800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Neurol"],"abstract":"<jats:p>This report describes a 3-year-old male patient with dwarfism, generalized muscular hypertrophy, stiffness, myotonia, multiple skeletal deformities and normal intelligence. Serum creatine kinase was twice elevated, EMG showed \u2018dive bomber\u2019 discharges and muscle biopsy revealed mild to moderate myopathic changes with variability in fiber size and \u2018moth-eaten\u2019 fibers. Multiple muscle cell cultures showed significantly lower values of total protein synthesis as determined by (3H)-leucine incorporation. The addition of calcium and\/or A23187 calcium ionophor\u00e8 to cultures significantly stimulated total protein synthesis in contrast to the lack of effect of these drugs in control cultures. These findings suggest a dysfunction of muscle sarcolemma in Schwartz-Jampel syndrome.<\/jats:p>","DOI":"10.1159\/000115204","type":"journal-article","created":{"date-parts":[[2008,1,30]],"date-time":"2008-01-30T06:02:04Z","timestamp":1201672924000},"page":"46-51","source":"Crossref","is-referenced-by-count":4,"title":["Schwartz-Jampel Syndrome: a Case Report"],"prefix":"10.1159","author":[{"given":"Nina","family":"Scribanu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor","family":"Ionasescu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2008,1,29]]},"container-title":["European Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/115204","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000115204","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T11:05:31Z","timestamp":1777547131000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000115204"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1,29]]},"references-count":0,"URL":"https:\/\/doi.org\/10.1159\/000115204","archive":["Portico"],"relation":{},"ISSN":["0014-3022","1421-9913"],"issn-type":[{"value":"0014-3022","type":"print"},{"value":"1421-9913","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1,29]]}}}