{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:41:53Z","timestamp":1760784113520,"version":"3.37.3"},"reference-count":9,"publisher":"Wiley","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["CI 218\/1-1"],"award-info":[{"award-number":["CI 218\/1-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["CI 218\/1-1"],"award-info":[{"award-number":["CI 218\/1-1"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BioMed Research International"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>Megaconial congenital muscular dystrophy (OMIM 602541) is characterized with early-onset hypotonia, muscle wasting, proximal weakness, cardiomyopathy, mildly elevated serum creatine kinase (CK) levels, and mild-to-moderate intellectual disability. We report two siblings in a consanguineous family admitted for psychomotor delay. Physical examination revealed proximal muscle weakness, contractures in the knee of elder sibling, diffuse mild generalized muscle atrophy, and dry skin with ichthyosis together with multiple nummular eczema in both siblings. Serum CK values were elevated up to 500\u2009U\/L. For genetic work-up, we performed whole exome sequencing (WES) after Nimblegen enrichment on the Illumina platform. The WES revealed a novel homozygous missense mutation in the Choline Kinase-Beta (<jats:italic>CHKB<\/jats:italic>) gene c.1031G&gt;A (p.R344Q) in exon 9. Ichthyosis-like skin changes with intense pruritus and nummular eczema may lead to clinical diagnosis in cases with megaconial congenital muscular dystrophy.<\/jats:p>","DOI":"10.1155\/2016\/3128735","type":"journal-article","created":{"date-parts":[[2016,3,31]],"date-time":"2016-03-31T17:20:18Z","timestamp":1459444818000},"page":"1-3","source":"Crossref","is-referenced-by-count":6,"title":["Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies"],"prefix":"10.1155","volume":"2016","author":[{"given":"Ulu\u00e7","family":"Yis","sequence":"first","affiliation":[{"name":"Division of Child Neurology, Department of Pediatrics, School of Medicine, Dokuz Eyl\u00fcl University, 35340 \u0130zmir, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Figen","family":"Baydan","sequence":"additional","affiliation":[{"name":"\u0130zmir Tepecik Training and Research Hospital, Division of Child Neurology, 35040 \u0130zmir, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mert","family":"Karakaya","sequence":"additional","affiliation":[{"name":"University Hospital of Cologne, Institute of Human Genetics, 50931 Cologne, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Semra","family":"H\u0131z Kurul","sequence":"additional","affiliation":[{"name":"Division of Child Neurology, Department of Pediatrics, School of Medicine, Dokuz Eyl\u00fcl University, 35340 \u0130zmir, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebahattin","family":"Cirak","sequence":"additional","affiliation":[{"name":"University Hospital of Cologne, Institute of Human Genetics, 50931 Cologne, Germany"},{"name":"University Hospital of Cologne, Department of Pediatrics, 50931 Cologne, Germany"},{"name":"Center for Molecular Medicine, 50931 Cologne, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.12.011"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(199801)21:1<40::AID-MUS6>3.0.CO;2-G"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.010"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr305"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2006.08.084"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1097\/wco.0b013e328364c82d"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.04.002"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-015-9856-2"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.06.003"}],"container-title":["BioMed Research International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2016\/3128735.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2016\/3128735.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/bmri\/2016\/3128735.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2016,8,18]],"date-time":"2016-08-18T13:00:35Z","timestamp":1471525235000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.hindawi.com\/journals\/bmri\/2016\/3128735\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":9,"alternative-id":["3128735","3128735"],"URL":"https:\/\/doi.org\/10.1155\/2016\/3128735","relation":{},"ISSN":["2314-6133","2314-6141"],"issn-type":[{"type":"print","value":"2314-6133"},{"type":"electronic","value":"2314-6141"}],"subject":[],"published":{"date-parts":[[2016]]}}}