{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T13:48:29Z","timestamp":1784555309283,"version":"3.55.0"},"reference-count":10,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2013,9,20]],"date-time":"2013-09-20T00:00:00Z","timestamp":1379635200000},"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":["J Child Neurol"],"published-print":{"date-parts":[[2015,4]]},"abstract":"<jats:p>Nemaline myopathy is a type of the heterogeneous group of congenital myopathies. Generalized hypotonia, weakness, and delayed motor development are the main clinical features of the typical congenital form. Histopathology shows characteristic nemaline rods in the muscle biopsy. Mutations in at least 7 genes, including nebulin gene ( NEB), proved to be responsible for this muscle disease. We present a boy with nemaline myopathy type 2 (NEM2) caused by compound heterozygosity for 2 novel mutations, a deletion and a duplication in the NEB gene. The deletion was inherited from the father and the duplication from the mother. Testing all family members supports genetic counseling.<\/jats:p>","DOI":"10.1177\/0883073813494476","type":"journal-article","created":{"date-parts":[[2013,9,21]],"date-time":"2013-09-21T00:01:45Z","timestamp":1379721705000},"page":"627-630","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Nemaline Myopathy Type 2 (NEM2)"],"prefix":"10.1177","volume":"30","author":[{"given":"Anna","family":"Gajda","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Szeged, Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emese","family":"Horv\u00e1th","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Szeged, Szeged, Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tibor","family":"Hortob\u00e1gyi","sequence":"additional","affiliation":[{"name":"Department of Neuropathology, University of 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Hungary"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2013,9,20]]},"reference":[{"key":"bibr1-0883073813494476","doi-asserted-by":"publisher","DOI":"10.1007\/s11910-012-0255-x"},{"key":"bibr2-0883073813494476","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2011.10.004"},{"key":"bibr3-0883073813494476","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2011.10.002"},{"key":"bibr4-0883073813494476","doi-asserted-by":"publisher","DOI":"10.1096\/fj.10-157412"},{"key":"bibr5-0883073813494476","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(89)90002-6"},{"key":"bibr6-0883073813494476","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(99)00129-7"},{"key":"bibr7-0883073813494476","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000249151.45200.71"},{"key":"bibr8-0883073813494476","doi-asserted-by":"publisher","DOI":"10.1002\/jmri.20804"},{"key":"bibr9-0883073813494476","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(99)00061-9"},{"key":"bibr10-0883073813494476","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00065-2"}],"container-title":["Journal 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