{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T06:04:17Z","timestamp":1792735457054,"version":"4.5.0"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,8,30]],"date-time":"2014-08-30T00:00:00Z","timestamp":1409356800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: Recessive mutations in the anoctamin\u20105 gene (<jats:italic>ANO5<\/jats:italic>) cause a spectrum of clinical phenotypes, including limb\u2010girdle muscular dystrophy (LGMD 2L), distal myopathy, and asymptomatic hyperCKemia. <jats:italic>Methods<\/jats:italic>: In this report we describe our clinical, electrophysiological, pathological, and molecular findings in a subject with anoctaminopathy\u20105. <jats:italic>Results<\/jats:italic>: A 49\u2010year\u2010old Arabic man from a consanguineous family presented with a 5\u2010year history of myalgias, hyperCKemia and an episode of unprovoked rhabdomyolysis. Muscle biopsy showed mild myopathic changes and interstitial amyloid deposition. <jats:italic>ANO5<\/jats:italic> analysis detected a novel homozygous deletion of approximately 11.9 kb encompassing exons 13\u201317, predicted to be pathogenic. <jats:italic>Conclusions<\/jats:italic>: Anoctaminopathy\u20105 can manifest with a phenotype reminiscent of metabolic myopathy and should be considered as a potential cause of myalgia and myoglobinuria. Amyloid deposition in the muscle biopsy is helpful for the diagnosis. A novel homozygous <jats:italic>ANO5<\/jats:italic> deletion was identified, suggesting that screening for common mutations may have low yield in non\u2010European subjects. <jats:italic>Muscle Nerve<\/jats:italic> 50: 610\u2013613, 2014<\/jats:p>","DOI":"10.1002\/mus.24302","type":"journal-article","created":{"date-parts":[[2014,6,3]],"date-time":"2014-06-03T13:24:34Z","timestamp":1401801874000},"page":"610-613","source":"Crossref","is-referenced-by-count":33,"title":["Novel <i>ANO5<\/i> homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man"],"prefix":"10.1002","volume":"50","author":[{"given":"Rajat","family":"Lahoria","sequence":"first","affiliation":[{"name":"Department of Neurology Mayo Clinic 200 First Street SW Rochester Minnesota 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas L.","family":"Winder","sequence":"additional","affiliation":[{"name":"PreventionGenetics Marshfield Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Lui","sequence":"additional","affiliation":[{"name":"PreventionGenetics Marshfield Wisconsin USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed A.","family":"Al\u2010Owain","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics King Faisal Specialist Hospital and Research Centre  Riyadh Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology College of Medicine, Alfaisal University  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Milone","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic 200 First Street SW Rochester Minnesota 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,8,30]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00140.2011"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpj.2009.09.024"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.12.013"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq294"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31824c4682"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22342"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.12191"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.07.005"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.64.8.1176"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4598(199808)21:8<1078::AID-MUS15>3.0.CO;2-Q"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21823"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21309"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-013-6934-y"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2012.09.070"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.05.012"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.02.007"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.24302","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.24302","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.24302","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T05:25:40Z","timestamp":1696397140000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.24302"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,8,30]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2014,10]]}},"alternative-id":["10.1002\/mus.24302"],"URL":"https:\/\/doi.org\/10.1002\/mus.24302","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,8,30]]}}}