{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T17:28:41Z","timestamp":1776187721369,"version":"3.50.1"},"reference-count":47,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,5,20]],"date-time":"2018-05-20T00:00:00Z","timestamp":1526774400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003725","name":"National Research Foundation of Korea","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003621","name":"Ministry of Science, ICT and Future Planning","doi-asserted-by":"publisher","award":["NRF\u20102013R1A1A3006443"],"award-info":[{"award-number":["NRF\u20102013R1A1A3006443"]}],"id":[{"id":"10.13039\/501100003621","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009950","name":"Ministry of Education","doi-asserted-by":"publisher","award":["NRF\u20102017R1D1A1B03031011"],"award-info":[{"award-number":["NRF\u20102017R1D1A1B03031011"]}],"id":[{"id":"10.13039\/100009950","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2018,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Congenital myopathies are muscle diseases characterized by specific histopathologic features, generalized hypotonia from birth, and perinatal complications, although some cases develop during childhood or, rarely, in adulthood. We undertook this study to characterize congenital myopathies among patients registered at our institution. <jats:italic>Methods<\/jats:italic>: Clinical, histopathologic, and genetic features were evaluated in 34 patients recruited for this study. <jats:italic>Results<\/jats:italic>: The majority of patients experienced a childhood onset, and no disease\u2010related mortality was recorded during follow\u2010up. Functional outcomes were no better for those with late\u2010onset disease, indicating later disease progression can be significant. Nemaline myopathy was the most frequent pathology, followed by central core disease and centronuclear myopathy. Among the 18 (54.5%) genetically confirmed patients, <jats:italic>NEB<\/jats:italic> and <jats:italic>RYR1<\/jats:italic> mutations were the most common, followed by <jats:italic>DNM2<\/jats:italic> mutations. <jats:italic>Discussion<\/jats:italic>: This study shows features not previously reported and suggests that congenital myopathy should be considered an important issue among adult patients. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>58<\/jats:bold>: 235\u2013244, 2018<\/jats:p>","DOI":"10.1002\/mus.26147","type":"journal-article","created":{"date-parts":[[2018,4,18]],"date-time":"2018-04-18T19:41:29Z","timestamp":1524080489000},"page":"235-244","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Characterization of congenital myopathies at a Korean neuromuscular 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