{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:07:23Z","timestamp":1777802843213,"version":"3.51.4"},"reference-count":19,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2007,6,1]],"date-time":"2007-06-01T00:00:00Z","timestamp":1180656000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2007,6]]},"abstract":"<jats:p>The clinical features of 37 patients from 32 Israeli families with congenital myopathies evaluated between 1983 and 2004 are described: 13 children were diagnosed with congenital fiber type disproportion, 10 had myotubular myopathy, 7 had nemaline myopathy, 5 had central core disease, 1 had actin myopathy, and 1 had multi-minicore disease. There were 7 families (22%) that had parental consanguinity, and 4 families (12%) had more than 1 patient with congenital myopathy. Of the patients, 31 (84%) presented with clinical symptoms before 4 months of age, and 6 children (16%) presented after 1 year of age. Thirteen children (35%) had a severe phenotype with chronic ventilatory dependence or mortality before the age of 11 years. Facial weakness was associated with a severe phenotype. There was a high rate of a severe clinical phenotype in patients with myotubular myopathy (60%) and in patients with nemaline myopathy (57%), whereas in patients with congenital fiber type disproportion and in patients with central core disease, the proportion of a severe phenotype was lower (23% and 0%, respectively).<\/jats:p>","DOI":"10.1177\/0883073807304193","type":"journal-article","created":{"date-parts":[[2007,7,19]],"date-time":"2007-07-19T17:03:12Z","timestamp":1184864592000},"page":"732-736","source":"Crossref","is-referenced-by-count":7,"title":["Congenital Myopathies in Israeli Families"],"prefix":"10.1177","volume":"22","author":[{"given":"Karin","family":"Weiss","sequence":"first","affiliation":[{"name":"Sourasky Medical Center, Tel-Aviv"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yehuda","family":"Shapira","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Hadassah Hebrew University Medical Center, 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