{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T18:34:57Z","timestamp":1789756497904,"version":"4.0.1"},"reference-count":11,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2017,10,24]],"date-time":"2017-10-24T00:00:00Z","timestamp":1508803200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2017,10,24]]},"abstract":"<jats:p>Autosomal dominant centronuclear myopathy (CNM) caused by mutations in the gene coding for amphiphysin-2 ( BIN1) typically presents in adulthood with progressive muscle weakness. We report a Dutch family with AD CNM due to a novel BIN1 mutation (c.53T&gt;A (p.Val18Glu)), strongly impairing the membrane tubulation activity of amphiphysin-2. The main features were mild proximal weakness with pronounced myalgia, exercise intolerance and large muscle mass, with a childhood onset in the youngest generation and mild cognitive features. This suggests BIN1 mutations should be considered in patients with isolated exercise intolerance and myalgia, even in childhood.<\/jats:p>","DOI":"10.3233\/jnd-170238","type":"journal-article","created":{"date-parts":[[2017,10,31]],"date-time":"2017-10-31T12:07:32Z","timestamp":1509451652000},"page":"349-355","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in\n                    <i>BIN1<\/i>"],"prefix":"10.1177","volume":"4","author":[{"given":"Carlyn","family":"Kouwenberg","sequence":"first","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud university medical centre, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johann","family":"Bohm","sequence":"additional","affiliation":[{"name":"Institut de G\u00e9n\u00e9tique et 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