{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T15:53:53Z","timestamp":1770220433992,"version":"3.49.0"},"reference-count":36,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,9,16]],"date-time":"2015-09-16T00:00:00Z","timestamp":1442361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000097","name":"National Center for Research Resources","doi-asserted-by":"publisher","award":["R24 RR016094"],"award-info":[{"award-number":["R24 RR016094"]}],"id":[{"id":"10.13039\/100000097","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003516","name":"Winn Feline Foundation","doi-asserted-by":"publisher","award":["W10\u2010014"],"award-info":[{"award-number":["W10\u2010014"]}],"id":[{"id":"10.13039\/100003516","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003516","name":"Winn Feline Foundation","doi-asserted-by":"publisher","award":["W11\u2010041"],"award-info":[{"award-number":["W11\u2010041"]}],"id":[{"id":"10.13039\/100003516","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100003516","name":"Winn Feline Foundation","doi-asserted-by":"publisher","award":["MT13\u2010010"],"award-info":[{"award-number":["MT13\u2010010"]}],"id":[{"id":"10.13039\/100003516","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007707","name":"University of California, Davis","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007707","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2015,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Some Devon Rex and Sphynx cats have a variably progressive myopathy characterized by appendicular and axial muscle weakness, megaesophagus, pharyngeal weakness and fatigability with exercise. Muscle biopsies from affected cats demonstrated variable pathological changes ranging from dystrophic features to minimal abnormalities. Affected cats have exacerbation of weakness following anticholinesterase dosing, a clue that there is an underlying congenital myasthenic syndrome (CMS). A genome\u2010wide association study and whole\u2010genome sequencing suggested a causal variant for this entity was a c.1190G&gt;A variant causing a cysteine to tyrosine substitution (p.Cys397Tyr) within the C\u2010terminal domain of <jats:italic>collagen\u2010like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase<\/jats:italic> (<jats:italic>COLQ<\/jats:italic>). Alpha\u2010dystroglycan expression, which is associated with <jats:italic>COLQ<\/jats:italic> anchorage at the motor end\u2010plate, has been shown to be deficient in affected cats. Eighteen affected cats were identified by genotyping, including cats from the original clinical descriptions in 1993 and subsequent publications. Eight Devon Rex and one Sphynx not associated with the study were identified as carriers, suggesting an allele frequency of ~2.0% in Devon Rex. Over 350 tested cats from other breeds did not have the variant. Characteristic clinical features and variant presence in all affected cats suggest a model for <jats:italic>COLQ<\/jats:italic> CMS. The association between the <jats:italic>COLQ<\/jats:italic> variant and this CMS affords clinicians the opportunity to confirm diagnosis via genetic testing and permits owners and breeders to identify carriers in the population. Moreover, accurate diagnosis increases available therapeutic options for affected cats based on an understanding of the pathophysiology and experience from human CMS associated with <jats:italic>COLQ<\/jats:italic> variants.<\/jats:p>","DOI":"10.1111\/age.12350","type":"journal-article","created":{"date-parts":[[2015,9,16]],"date-time":"2015-09-16T06:28:52Z","timestamp":1442384932000},"page":"711-715","source":"Crossref","is-referenced-by-count":36,"title":["<i><scp>COLQ<\/scp><\/i> variant associated with <scp>D<\/scp>evon <scp>R<\/scp>ex and <scp>S<\/scp>phynx feline hereditary myopathy"],"prefix":"10.1111","volume":"46","author":[{"given":"Barbara","family":"Gandolfi","sequence":"first","affiliation":[{"name":"Department of Veterinary Medicine and Surgery College of Veterinary Medicine University of Missouri \u2013 Columbia Columbia MO 65211 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert A.","family":"Grahn","sequence":"additional","affiliation":[{"name":"Veterinary Genetics Laboratory School of Veterinary Medicine University of California \u2013 Davis Davis CA 95616 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erica K.","family":"Creighton","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Surgery College of Veterinary Medicine University of Missouri \u2013 Columbia Columbia MO 65211 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. Colette","family":"Williams","sequence":"additional","affiliation":[{"name":"The William R. Pritchard Veterinary Medical Teaching Hospital School of Veterinary Medicine University of California \u2013 Davis Davis CA 95616 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter J.","family":"Dickinson","sequence":"additional","affiliation":[{"name":"Department of Surgical and Radiological Sciences School of Veterinary Medicine University of California \u2013 Davis Davis CA 95616 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beverly K.","family":"Sturges","sequence":"additional","affiliation":[{"name":"Department of Surgical and Radiological Sciences School of Veterinary Medicine University of California \u2013 Davis Davis CA 95616 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling T.","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Surgical and Radiological Sciences School of Veterinary Medicine University of California \u2013 Davis Davis CA 95616 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. Diane","family":"Shelton","sequence":"additional","affiliation":[{"name":"Department of Pathology University of California \u2013 San Diego La Jolla CA 92093 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter A. J.","family":"Leegwater","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences of Companion Animals Faculty of Veterinary Medicine Utrecht University 3508 TD Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Longeri","sequence":"additional","affiliation":[{"name":"Dipartimento di Scienze Veterinarie e Sanit\u00e0 Pubblica University of Milan Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Malik","sequence":"additional","affiliation":[{"name":"Centre for Veterinary Education University of Sydney Sydney NSW 2006 Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie A.","family":"Lyons","sequence":"additional","affiliation":[{"name":"Department of Veterinary Medicine and Surgery College of Veterinary Medicine University of Missouri \u2013 Columbia Columbia MO 65211 USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,9,16]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22130"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-8-27"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu170"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200307164"},{"key":"e_1_2_3_6_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1010"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.coph.2004.12.007"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10269"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn1101"},{"key":"e_1_2_3_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2012.06803.x"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70201-7"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu314"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00335-010-9290-6"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0053173"},{"key":"e_1_2_3_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jfms.2004.02.003"},{"key":"e_1_2_3_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e328364dc0f"},{"key":"e_1_2_3_18_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M305462200"},{"key":"e_1_2_3_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-002-0134-8"},{"key":"e_1_2_3_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_3_21_1","first-page":"261","article-title":"Episodic collapse and weakness in cats","volume":"29","author":"Lievesley P.","year":"1989","journal-title":"Veterinary Annual"},{"key":"e_1_2_3_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1748-5827.1993.tb03544.x"},{"key":"e_1_2_3_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.08.002"},{"key":"e_1_2_3_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awm325"},{"key":"e_1_2_3_25_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1410083111"},{"key":"e_1_2_3_26_1","first-page":"854","article-title":"Congenital myasthenic syndromes: gene mutation","volume":"13","author":"Ohno K.","year":"2003","journal-title":"Neuromuscular Disorders"},{"key":"e_1_2_3_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200002)47:2<162::AID-ANA5>3.0.CO;2-Q"},{"key":"e_1_2_3_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/jhered\/esm026"},{"key":"e_1_2_3_29_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_3_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3036"},{"key":"e_1_2_3_31_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0106425"},{"key":"e_1_2_3_32_1","doi-asserted-by":"publisher","DOI":"10.1136\/vr.130.14.302-a"},{"key":"e_1_2_3_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku1177"},{"key":"e_1_2_3_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cbi.2005.10.007"},{"key":"e_1_2_3_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.10.019"},{"key":"e_1_2_3_36_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-007-0217-6"},{"key":"e_1_2_3_37_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4374-09.2010"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fage.12350","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.12350","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/age.12350","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.12350","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T13:40:10Z","timestamp":1696513210000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.12350"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9,16]]},"references-count":36,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["10.1111\/age.12350"],"URL":"https:\/\/doi.org\/10.1111\/age.12350","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,9,16]]}}}