{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T10:01:40Z","timestamp":1777543300463,"version":"3.51.4"},"reference-count":50,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,10,13]],"date-time":"2004-10-13T00:00:00Z","timestamp":1097625600000},"content-version":"vor","delay-in-days":8505,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[1981,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The nature of the defect in congenital myasthenia was investigated in biopsy specimens of intercostal muscle from 5 male patients whose symptoms presented between birth and 2 years of age. Miniature end\u2010plate potentials were reduced in amplitude in all 5 patients. The number of acetylcholine receptors as determined by \u03b1\u2010bungarotoxin binding was normal in case 1 and reduced in cases 2, 4, and 5. The shape of the endplates as shown by autoradiography and cholinesterase staining was normal in case 1 and elongated in cases 2, 4, and 5. In case 3, \u03b1\u2010bungarotoxin binding was slowly reversible, and there were some muscle fibers with multiple end\u2010plate regions. The acetylcholine content of the muscle was normal in all 5 cases. None of the patients had serum antibody to human acetylcholine receptor as measured by immunoprecipitation or inhibition of \u03b1\u2010bungarotoxin binding. We conclude that congenital myasthenia is a heterogeneous condition of nonimmune etiology in which both presynaptic and postsynaptic defects can be found.<\/jats:p>","DOI":"10.1002\/mus.880040407","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T08:00:23Z","timestamp":1104566423000},"page":"306-318","source":"Crossref","is-referenced-by-count":102,"title":["Congenital myasthenia: End\u2010plate acetylcholine receptors and electrophysiology in five cases"],"prefix":"10.1002","volume":"4","author":[{"given":"A.","family":"Vincent","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. G.","family":"Cull\u2010Candy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Newsom\u2010Davis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Trautmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. C.","family":"Molenaar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. L.","family":"Polak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,13]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4886(76)90179-5"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1973.sp010410"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.5.2130"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/267263a0"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.35.1.41"},{"key":"e_1_2_1_7_2","first-page":"321","article-title":"Immunological studies in patients with juvenile\u2010onset myasthenia and in their relatives","volume":"11","author":"Bundey S","year":"1972","journal-title":"Clin Exp Immunol"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1971.02110040140017"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1976.tb47672.x"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/103.3.579"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80651-2"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1976.sp011510"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1038\/271074a0"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1979.sp012657"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1980.sp013145"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1964.sp007495"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410010403"},{"key":"e_1_2_1_18_2","first-page":"267","article-title":"Immune complexes (IgG and C3) at the motor endplate in myasthenia gravis. Ultrastructural and light microscopic localization and electrophysiologic correlations","volume":"52","author":"Engel AG","year":"1977","journal-title":"Mayo Clin Proc"},{"key":"e_1_2_1_19_2","first-page":"146","article-title":"Investigations of three cases of a newly recognised familial congenital myasthenic syndrome","volume":"6","author":"Engel AG","year":"1979","journal-title":"Ann Neurol"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.27.4.307"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.182.4109.293"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1978.00500260035009"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1970.tb05796.x"},{"key":"e_1_2_1_24_2","first-page":"557","article-title":"A congenital familial myasthenic syndrome caused by a presynaptic defect of transmitter resynthesis or mobilization","volume":"29","author":"Hart SH","year":"1979","journal-title":"Neurology (Minneap)"},{"key":"e_1_2_1_25_2","first-page":"89","volume-title":"Biochemistry of Myasthenia Gravis and Muscular Dystrophy","author":"Ito Y","year":"1978"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1098\/rspb.1976.0025"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/101.2.345"},{"key":"e_1_2_1_28_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.850793"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1972.sp009918"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197701062960124"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneurpsyc.1949.02310180046006"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.2.130"},{"key":"e_1_2_1_33_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.26.11.1054"},{"key":"e_1_2_1_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-8993(78)90409-2"},{"key":"e_1_2_1_35_2","doi-asserted-by":"publisher","DOI":"10.1098\/rspb.1977.0071"},{"key":"e_1_2_1_36_2","doi-asserted-by":"publisher","DOI":"10.1038\/233599a0"},{"key":"e_1_2_1_37_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.10.11.1007"},{"key":"e_1_2_1_38_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0079-6123(08)64657-9"},{"key":"e_1_2_1_39_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.3.265"},{"key":"e_1_2_1_40_2","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1542\/peds.45.3.488","article-title":"Neonatal myasthenia gravis: report of two cases and review of the literature","volume":"43","author":"Namba T","year":"1970","journal-title":"Pediatrics"},{"key":"e_1_2_1_41_2","first-page":"17","article-title":"Plasma exchange in myasthenia gravis","volume":"1","author":"Newsom\u2010Davis J","year":"1979","journal-title":"Plasmatherapy"},{"key":"e_1_2_1_42_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.3.266"},{"key":"e_1_2_1_43_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(76)91917-6"},{"key":"e_1_2_1_44_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1979.tb00364.x"},{"key":"e_1_2_1_45_2","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-198003000-00005"},{"key":"e_1_2_1_46_2","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(73)90036-5"},{"key":"e_1_2_1_47_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.27.3.289"},{"key":"e_1_2_1_48_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.8.804"},{"key":"e_1_2_1_49_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(79)90918-8"},{"key":"e_1_2_1_50_2","first-page":"269","article-title":"\u03b1\u2010Bungarotoxin and antiacetylcholine receptor antibody binding to the human acetylcholine receptor","volume":"3","author":"Vincent A","year":"1979","journal-title":"Adv Cytopharmacol"},{"key":"e_1_2_1_51_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.39.12.1145"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.880040407","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.880040407","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T04:20:20Z","timestamp":1699762820000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.880040407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,7]]},"references-count":50,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1981,7]]}},"alternative-id":["10.1002\/mus.880040407"],"URL":"https:\/\/doi.org\/10.1002\/mus.880040407","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[1981,7]]}}}