{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T02:45:55Z","timestamp":1787021155935,"version":"build-2736575974"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2008,6,28]],"date-time":"2008-06-28T00:00:00Z","timestamp":1214611200000},"content-version":"vor","delay-in-days":27,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2008,6]]},"abstract":"<jats:p>\n                    During the past five\u2003years many patients suffering from congenital myasthenic syndromes (CMS) have been identified worldwide and novel causative genes and mutations have been discovered. The disease genes now include those encoding each subunit of the acetylcholine receptor (AChR), the ColQ part of acetylcholinesterase (AChE), choline acetyltransferase, Na\n                    <jats:sub>v<\/jats:sub>\n                    1.4, MuSK, and Dok\u20107. Moreover, emerging genotype\u2013phenotype correlations are providing clues for targeted mutation analysis. This review focuses on the recent observations in selected CMS.\n                  <\/jats:p>","DOI":"10.1196\/annals.1405.039","type":"journal-article","created":{"date-parts":[[2008,6,20]],"date-time":"2008-06-20T19:23:28Z","timestamp":1213989808000},"page":"104-113","source":"Crossref","is-referenced-by-count":27,"title":["<i>Further Observations in Congenital Myasthenic Syndromes<\/i>"],"prefix":"10.1111","volume":"1132","author":[{"given":"Andrew G.","family":"Engel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin\u2010Ming","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Duygu","family":"Selcen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven M.","family":"Sine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,6,28]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.98.4.2017"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M305462200"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.270.19.11043"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000167132.35865.31"},{"issue":"1","key":"e_1_2_7_6_2","first-page":"S129","article-title":"Ephedrine treatment of seven patients with congenital endplate acetylcholinesterase deficiency","volume":"16","author":"Brengman J.M.","year":"2006","journal-title":"Neuromuscul. 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