{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T02:01:38Z","timestamp":1791252098360,"version":"4.1.0"},"reference-count":38,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001700","name":"MEXT","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001700","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"MHLW","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2015,1]]},"DOI":"10.1016\/j.nmd.2014.09.002","type":"journal-article","created":{"date-parts":[[2014,9,10]],"date-time":"2014-09-10T07:39:19Z","timestamp":1410334759000},"page":"60-69","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits"],"prefix":"10.1016","volume":"25","author":[{"given":"Yoshiteru","family":"Azuma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiko","family":"Nakata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Motoki","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7087-5166","authenticated-orcid":false,"given":"Xin-Ming","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikako","family":"Ito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Iwata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuya","family":"Okuno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshiko","family":"Nomura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoki","family":"Ando","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Ishigaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bisei","family":"Ohkawara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akio","family":"Masuda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Natsume","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiji","family":"Kojima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7791-0166","authenticated-orcid":false,"given":"Masahiro","family":"Sokabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kinji","family":"Ohno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.nmd.2014.09.002_bib0010","doi-asserted-by":"crossref","first-page":"11468","DOI":"10.1523\/JNEUROSCI.2508-08.2008","article-title":"Identification of a motif in the acetylcholine receptor beta subunit whose phosphorylation regulates rapsyn association and postsynaptic receptor localization","volume":"28","author":"Borges","year":"2008","journal-title":"J Neurosci"},{"key":"10.1016\/j.nmd.2014.09.002_bib0015","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1038\/nrm1074","article-title":"New insights into the roles of agrin","volume":"4","author":"Bezakova","year":"2003","journal-title":"Nat Rev Mol Cell Biol"},{"key":"10.1016\/j.nmd.2014.09.002_bib0020","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.conb.2010.12.002","article-title":"Wnt signaling during synaptic development and plasticity","volume":"21","author":"Budnik","year":"2011","journal-title":"Curr Opin Neurobiol"},{"key":"10.1016\/j.nmd.2014.09.002_bib0025","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1038\/nrn2681","article-title":"WNTs tune up the neuromuscular junction","volume":"10","author":"Korkut","year":"2009","journal-title":"Nat Rev Neurosci"},{"key":"10.1016\/j.nmd.2014.09.002_bib0030","series-title":"Neuromuscul. Disord","first-page":"175","article-title":"Congenital myasthenic syndromes \u2013 molecular bases of congenital defects of proteins at the neuromuscular junction","author":"Ohno","year":"2012"},{"key":"10.1016\/j.nmd.2014.09.002_bib0035","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1212\/WNL.59.2.162","article-title":"Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes","volume":"59","author":"Croxen","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2014.09.002_bib0040","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1002\/1531-8249(200002)47:2<162::AID-ANA5>3.0.CO;2-Q","article-title":"The spectrum of mutations causing endplate acetylcholinesterase deficiency","volume":"47","author":"Ohno","year":"2000","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2014.09.002_bib0045","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1002\/humu.22325","article-title":"Mutations in the C-terminal domain of ColQ in endplate acetylcholinesterase deficiency compromise ColQ-MuSK interaction","volume":"34","author":"Nakata","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1016\/j.nmd.2014.09.002_bib0050","doi-asserted-by":"crossref","first-page":"e8","DOI":"10.1136\/jmg.2003.012245","article-title":"Lack of founder haplotype for the rapsyn N88K mutation: N88K is an ancient founder mutation or arises from multiple founders","volume":"41","author":"Ohno","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2014.09.002_bib0055","doi-asserted-by":"crossref","first-page":"e104","DOI":"10.1136\/jmg.2004.021139","article-title":"The congenital myasthenic syndrome mutation RAPSN N88K derives from an ancient Indo-European founder","volume":"41","author":"Muller","year":"2004","journal-title":"J Med Genet"},{"key":"10.1016\/j.nmd.2014.09.002_bib0060","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1007\/s10038-004-0159-y","article-title":"Common founder effect of rapsyn N88K studied using intragenic markers","volume":"49","author":"Dunne","year":"2004","journal-title":"J Hum Genet"},{"key":"10.1016\/j.nmd.2014.09.002_bib0065","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1007\/s00415-009-5405-y","article-title":"Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7","volume":"257","author":"Ben Ammar","year":"2010","journal-title":"J Neurol"},{"key":"10.1016\/j.nmd.2014.09.002_bib0070","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/S0896-6273(00)80289-5","article-title":"Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit","volume":"17","author":"Ohno","year":"1996","journal-title":"Neuron"},{"key":"10.1016\/j.nmd.2014.09.002_bib0075","doi-asserted-by":"crossref","first-page":"1867","DOI":"10.1172\/JCI34527","article-title":"Congenital myasthenia-related AChR delta subunit mutation interferes with intersubunit communication essential for channel gating","volume":"118","author":"Shen","year":"2008","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nmd.2014.09.002_bib0080","first-page":"37","article-title":"[Treatment approach to congenital myasthenic syndrome in a patient with acetylcholine receptor deficiency]","volume":"41","author":"Ishigaki","year":"2009","journal-title":"No to Hattatsu"},{"key":"10.1016\/j.nmd.2014.09.002_bib0085","first-page":"450","article-title":"[Clinical features of congenital myasthenic syndrome in Japan]","volume":"44","author":"Irahara","year":"2012","journal-title":"No to Hattatsu"},{"key":"10.1016\/j.nmd.2014.09.002_bib0090","doi-asserted-by":"crossref","first-page":"e918","DOI":"10.1371\/journal.pone.0000918","article-title":"High throughput genetic analysis of congenital myasthenic syndromes using resequencing microarrays","volume":"2","author":"Denning","year":"2007","journal-title":"PLoS ONE"},{"key":"10.1016\/j.nmd.2014.09.002_bib0095","doi-asserted-by":"crossref","first-page":"e100924","DOI":"10.1371\/journal.pone.0100924","article-title":"Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants","volume":"9","author":"Narahara","year":"2014","journal-title":"PLoS ONE"},{"key":"10.1016\/j.nmd.2014.09.002_bib0100","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1002\/ana.410400521","article-title":"End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit","volume":"40","author":"Engel","year":"1996","journal-title":"Ann Neurol"},{"key":"10.1016\/j.nmd.2014.09.002_bib0105","doi-asserted-by":"crossref","first-page":"1217","DOI":"10.1093\/hmg\/5.9.1217","article-title":"New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome","volume":"5","author":"Engel","year":"1996","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2014.09.002_bib0110","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1093\/hmg\/6.5.753","article-title":"Congenital myasthenic syndromes due to heteroallelic nonsense\/missense mutations in the acetylcholine receptor epsilon subunit gene: identification and functional characterization of six new mutations","volume":"6","author":"Ohno","year":"1997","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.nmd.2014.09.002_bib0115","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1073\/pnas.92.3.758","article-title":"Congenital myasthenic syndrome caused by prolonged acetylcholine receptor channel openings due to a mutation in the M2 domain of the epsilon subunit","volume":"92","author":"Ohno","year":"1995","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.nmd.2014.09.002_bib0120","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/S0896-6273(00)80996-4","article-title":"Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit","volume":"20","author":"Milone","year":"1998","journal-title":"Neuron"},{"key":"10.1016\/j.nmd.2014.09.002_bib0125","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1085\/jgp.116.3.449","article-title":"Fundamental gating mechanism of nicotinic receptor channel revealed by mutation causing a congenital myasthenic syndrome","volume":"116","author":"Wang","year":"2000","journal-title":"J Gen Physiol"},{"key":"10.1016\/j.nmd.2014.09.002_bib0130","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1172\/JCI16997","article-title":"Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating","volume":"111","author":"Shen","year":"2003","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nmd.2014.09.002_bib0135","doi-asserted-by":"crossref","first-page":"2613","DOI":"10.1172\/JCI63415","article-title":"Myasthenic syndrome AChRalpha C-loop mutant disrupts initiation of channel gating","volume":"122","author":"Shen","year":"2012","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nmd.2014.09.002_bib0140","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1212\/01.WNL.0000118205.99701.41","article-title":"Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome","volume":"62","author":"Webster","year":"2004","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2014.09.002_bib0145","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1038\/6326","article-title":"Acetylcholine receptor M3 domain: stereochemical and volume contributions to channel gating","volume":"2","author":"Wang","year":"1999","journal-title":"Nat Neurosci"},{"key":"10.1016\/j.nmd.2014.09.002_bib0150","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1172\/JCI200112935","article-title":"Acetylcholine receptor d subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita","volume":"108","author":"Brownlow","year":"2001","journal-title":"J Clin Invest"},{"key":"10.1016\/j.nmd.2014.09.002_bib0155","doi-asserted-by":"crossref","first-page":"1881","DOI":"10.1212\/01.WNL.0000042422.87384.2F","article-title":"Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation","volume":"59","author":"Shen","year":"2002","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2014.09.002_bib0160","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.nmd.2013.10.009","article-title":"Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the alpha-epsilon subunit interface","volume":"24","author":"Webster","year":"2014","journal-title":"Neuromuscul Disord"},{"key":"10.1016\/j.nmd.2014.09.002_bib0165","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1212\/WNL.0b013e31825b5bda","article-title":"Highly fatal fast-channel syndrome caused by AChR epsilon subunit mutation at the agonist binding site","volume":"79","author":"Shen","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2014.09.002_bib0170","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1085\/jgp.20028568","article-title":"Naturally occurring mutations at the acetylcholine receptor binding site independently alter ACh binding and channel gating","volume":"120","author":"Sine","year":"2002","journal-title":"J Gen Physiol"},{"key":"10.1016\/j.nmd.2014.09.002_bib0175","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1093\/brain\/awh364","article-title":"Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker","volume":"128","author":"Shen","year":"2005","journal-title":"Brain"},{"issue":"Suppl. 3","key":"10.1016\/j.nmd.2014.09.002_bib0180","first-page":"A60","article-title":"Low-affinity fast-channel syndrome","volume":"56","author":"Shen","year":"2001","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2014.09.002_bib0185","doi-asserted-by":"crossref","first-page":"1403","DOI":"10.1172\/JCI8179","article-title":"Mutation causing congenital myasthenia reveals acetylcholine receptor beta\/delta subunit interaction essential for assembly","volume":"104","author":"Quiram","year":"1999","journal-title":"J Clin Invest"},{"issue":"Suppl. 2","key":"10.1016\/j.nmd.2014.09.002_bib0190","first-page":"A185","article-title":"Unusual congenital myasthenic syndrome with endplate AChR deficiency caused by alpha subunit mutations and a remitting-relapsing clinical course","volume":"51","author":"Milone","year":"1999","journal-title":"Neurology"},{"key":"10.1016\/j.nmd.2014.09.002_bib0195","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1093\/hmg\/6.5.767","article-title":"Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome","volume":"6","author":"Croxen","year":"1997","journal-title":"Hum Mol Genet"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096089661400635X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S096089661400635X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:03:28Z","timestamp":1760774608000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S096089661400635X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1]]},"references-count":38,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["S096089661400635X"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2014.09.002","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Congenital myasthenic syndrome in Japan: Ethnically unique mutations in muscle nicotinic acetylcholine receptor subunits","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2014.09.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}