{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T02:36:33Z","timestamp":1781058993248,"version":"3.54.1"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2014,11,22]],"date-time":"2014-11-22T00:00:00Z","timestamp":1416614400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Fundacion Alfonso Martin Escudero"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2015,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Mutations in the choline kinase beta (<jats:italic>CHKB<\/jats:italic>) gene are associated with a congenital muscular dystrophy with giant mitochondria at the periphery of muscle fibers. <jats:italic>Methods<\/jats:italic>: We describe a patient of Italian origin in whom whole\u2010exome sequencing revealed a novel homozygous nonsense mutation, c.648C&gt;A, p.(Tyr216*), in exon 5 of <jats:italic>CHKB<\/jats:italic>. <jats:italic>Results<\/jats:italic>: The patient presented with limb\u2010girdle weakness and hypotonia from birth with mental retardation, and had sudden and transient deteriorations of muscle strength with acute intercurrent illnesses. Previously undescribed sarcolemmal overexpression of utrophin was noted in the muscle biopsy. <jats:italic>Conclusions<\/jats:italic>: Pathological features broaden the description of the entity and provide new insight in the pathogenic mechanisms. This case highlights the usefulness of next\u2010generation sequencing in the diagnosis of rare and incompletely understood conditions. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>51<\/jats:bold>: 140\u2013143, 2015<\/jats:p>","DOI":"10.1002\/mus.24446","type":"journal-article","created":{"date-parts":[[2014,9,3]],"date-time":"2014-09-03T15:56:05Z","timestamp":1409759765000},"page":"140-143","source":"Crossref","is-referenced-by-count":18,"title":["Novel <i>CHKB<\/i> mutation expands the megaconial muscular dystrophy phenotype"],"prefix":"10.1002","volume":"51","author":[{"given":"Macarena","family":"Cabrera\u2010Serrano","sequence":"first","affiliation":[{"name":"Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research QQ Block, QEII Medical Centre, 6 Verdun Street Perth Western Australia 6009 Australia"},{"name":"Instituto de Biomedicina de Sevilla Hospital Universitario Virgen del Roc\u00edo\/CSIC\/Universidad de Sevilla Seville Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reimar C.","family":"Junckerstorff","sequence":"additional","affiliation":[{"name":"Section of Neuropathology PathWest Laboratory Medicine Western Australia Royal Perth Hospital Perth Western Australia Australia"},{"name":"Pathology and Laboratory Medicine University of Western Australia Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Atkinson","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Genomics Pathwest Laboratory Medicine Western Australia Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Padma","family":"Sivadorai","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Genomics Pathwest Laboratory Medicine Western Australia Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Allcock","sequence":"additional","affiliation":[{"name":"Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine University of Western Australia Perth Western Australia Australia"},{"name":"Department of Clinical Immunology Pathwest Laboratory Medicine Western Australia Royal Perth Hospital Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillipa","family":"Lamont","sequence":"additional","affiliation":[{"name":"Neurogenetic Unit Department of Neurology Royal Perth Hospital Perth Western Australia Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel G.","family":"Laing","sequence":"additional","affiliation":[{"name":"Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research QQ Block, QEII Medical Centre, 6 Verdun Street Perth Western Australia 6009 Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,11,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.010"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr305"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/89.1.133"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.2333"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2013.04.002"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.3109\/10408363.2012.658906"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e328364c82d"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.98.4.2017"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2013.126"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(92)90004-P"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(91)90023-L"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(06)80004-0"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.24446","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.24446","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T00:18:56Z","timestamp":1696378736000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.24446"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,11,22]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["10.1002\/mus.24446"],"URL":"https:\/\/doi.org\/10.1002\/mus.24446","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,11,22]]}}}