{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T03:53:51Z","timestamp":1791086031484,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,5,12]],"date-time":"2013-05-12T00:00:00Z","timestamp":1368316800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:sec><jats:title>Background and purpose<\/jats:title><jats:p>Anoctamin 5 (<jats:styled-content style=\"fixed-case\">ANO<\/jats:styled-content>5) is a putative intracellular calcium\u2010activated chloride channel. Recessive mutations in <jats:italic><jats:styled-content style=\"fixed-case\">ANO<\/jats:styled-content>5<\/jats:italic> cause primary skeletal muscle disorders (limb\u2010girdle muscular dystrophy 2L and distal muscular dystrophy), which are phenotypically similar to dysferlinopathy, a muscular dystrophy due to dysferlin\u2010encoding gene (<jats:italic><jats:styled-content style=\"fixed-case\">DYSF<\/jats:styled-content><\/jats:italic>) mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This study reports the phenotype and genotype of seven unrelated patients with <jats:italic><jats:styled-content style=\"fixed-case\">ANO<\/jats:styled-content>5<\/jats:italic>\u2010muscular dystrophy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Three patients had amyloid deposition in muscle and two had cardiac involvement. An additional patient without skeletal muscle amyloidosis had cardiac involvement with septal hypokinesis and supraventricular tachycardia requiring ablation. Amyloid subtyping using laser capture microdissection and mass spectrometry\u2010based proteomic analysis did not identify <jats:styled-content style=\"fixed-case\">ANO<\/jats:styled-content>5 or any fragment of <jats:styled-content style=\"fixed-case\">ANO<\/jats:styled-content>5 in the amyloid deposits, but detected other known amyloidogenic proteins. Three patients had myotonic discharges without clinical myotonia. Four <jats:italic><jats:styled-content style=\"fixed-case\">ANO<\/jats:styled-content>5<\/jats:italic> mutations are novel, including a heterozygous 0.4\u00a0Mb deletion involving the entire <jats:italic><jats:styled-content style=\"fixed-case\">ANO<\/jats:styled-content>5<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The results of the present study suggest that <jats:italic><jats:styled-content style=\"fixed-case\">ANO<\/jats:styled-content>5<\/jats:italic> mutations can be associated with amyloid deposition in muscle, but the nature of the amyloid deposits remains indeterminate, as does their relationship with cardiac involvement. <jats:italic><jats:styled-content style=\"fixed-case\">ANO<\/jats:styled-content>5<\/jats:italic> analysis should be considered in cases of muscle amyloid deposition of indeterminate etiology. Electrical myotonia can accompany <jats:styled-content style=\"fixed-case\">ANO<\/jats:styled-content>5\u2010muscular dystrophy.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.12191","type":"journal-article","created":{"date-parts":[[2013,5,12]],"date-time":"2013-05-12T19:38:38Z","timestamp":1368387518000},"page":"1383-1389","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":57,"title":["<i><scp>ANO<\/scp>5<\/i>\u2010<scp>m<\/scp>uscular dystrophy: clinical, pathological and molecular findings"],"prefix":"10.1111","volume":"20","author":[{"given":"T.","family":"Liewluck","sequence":"first","affiliation":[{"name":"Department of Neurology Mayo Clinic Rochester MN USA"},{"name":"Department of Neurology University of Colorado Denver School of Medicine Anschutz Medical Campus Aurora CO USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T. 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R.","family":"Bergen","sequence":"additional","affiliation":[{"name":"Proteomics Core Mayo Clinic Rochester MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Milone","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic Rochester MN USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,5,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.12.013"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpcell.00140.2011"},{"key":"e_1_2_7_4_1","article-title":"Dilated cardiomyopathy in patients with mutations in anoctamin 5","author":"Wahbi K","year":"2012","journal-title":"Int J Cardiol"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awq294"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e31824c4682"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.07.270"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2011.07.005"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2011.10.005"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23281"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-012-6502-x"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.05.001"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-08-045031-5.00007-4"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21309"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21650"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2010.261"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2009-07-230722"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.23270"},{"key":"e_1_2_7_19_1","first-page":"152","article-title":"Immunoglobulin light\u2010chain amyloidosis: growing recognition, new approaches to therapy, active clinical trials","volume":"26","author":"Gertz MA","year":"2012","journal-title":"Oncology (Williston Park)"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(11)70246-0"}],"container-title":["European Journal of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fene.12191","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ene.12191","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T09:01:10Z","timestamp":1696323670000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/ene.12191"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,12]]},"references-count":19,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2013,10]]}},"alternative-id":["10.1111\/ene.12191"],"URL":"https:\/\/doi.org\/10.1111\/ene.12191","archive":["Portico"],"relation":{},"ISSN":["1351-5101","1468-1331"],"issn-type":[{"value":"1351-5101","type":"print"},{"value":"1468-1331","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,12]]},"assertion":[{"value":"2013-01-22","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-04-08","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-05-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}