{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T16:43:59Z","timestamp":1789922639750,"version":"4.0.1"},"reference-count":54,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,10,7]],"date-time":"2004-10-07T00:00:00Z","timestamp":1097107200000},"content-version":"vor","delay-in-days":8164,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1982,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Five familial cases (in two families) and one sporadic case of a new congenital myasthenic syndrome were investigated. Symptoms arise in infancy or later life. Typically, one finds selective involvement of cervical, scapular, and finger extensor muscles, ophthalmoparesis, and variable involvement of other muscles. There is a repetitive muscle action potential to single nerve stimulus in all muscles and a decremental response at 2 to 3 Hz stimulation in clinically affected muscles. Microelectrode studies reveal markedly prolonged end\u2010plate potential (epp), miniature end\u2010plate potential (mepp), and miniature end\u2010plate current; normal quantum content of the epp; and a smaller than normal or low\u2010normal mepp amplitude. Light microscopy demonstrates predominance of type I fibers, small groups of atrophic fibers, tubular aggregates and vacuoles near end\u2010plates, abnormal end\u2010plate configuration, and nonspecific myopathic changes. Abundant acetylcholinesterase activity is present at all end\u2010plates, and the activity and kinetic properties of this enzyme in muscle are normal. Calcium accumulated at the end\u2010plate in one patient. Quantitative electron microscopy shows decrease in the size of nerve terminals, increase in the density of synaptic vesicles, and reduction in the length of postsynaptic membranes. There is focal degeneration of junctional folds with corresponding loss of acetylcholine receptor, most marked in cases with the lowest mepp amplitude. There are no immune complexes at the end\u2010plate. Fiber regions near end\u2010plates display dilation, proliferation, and degeneration of the sarcoplasmic reticulum; nuclear, mitochondrial, and myofibrillar degeneration; and vacuoles resembling those found in periodic paralysis. A prolonged open time of the acetylcholine\u2010induced ion channel is considered to be the basic abnormality and may account for the physiological, morphological, and clinical alterations.<\/jats:p>","DOI":"10.1002\/ana.410110603","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T13:34:29Z","timestamp":1104586469000},"page":"553-569","source":"Crossref","is-referenced-by-count":227,"title":["A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine\u2010induced ion channel"],"prefix":"10.1002","volume":"11","author":[{"given":"Andrew G.","family":"Engel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward H.","family":"Lambert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donald M.","family":"Mulder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos F.","family":"Torres","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ko","family":"Sahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tulio E.","family":"Bertorini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John N.","family":"Whitaker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,7]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1973.sp010410"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1042\/bj1830339"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/273469a0"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.5.439"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1937.sp003474"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1960.sp006391"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.1040740104"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1980.tb09961.x"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/271074a0"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1956.sp005554"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1978.sp012431"},{"key":"e_1_2_1_13_2","first-page":"211","article-title":"Effects of eserine on neuromuscular transmission","volume":"5","author":"Eccles JC","year":"1942","journal-title":"J Physiol (Lond)"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.1964.sp007495"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1152\/physrev.1977.57.1.71"},{"key":"e_1_2_1_16_2","first-page":"774","article-title":"Evolution and content of vacuoles in primary hypokalemic periodic paralysis","volume":"45","author":"Engel AG","year":"1970","journal-title":"Mayo Clin Proc"},{"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 end\u2010plate in myasthenia gravis. 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