{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T14:01:33Z","timestamp":1761487293286},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,10,13]],"date-time":"2004-10-13T00:00:00Z","timestamp":1097625600000},"content-version":"vor","delay-in-days":4609,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[1992,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We studied 4 siblings (3 men and 1 woman), ages 22 to 43 years, with congenital ptosis, external ophthalmoplegia, proximal muscle weakness and fatigability unresponsive to acetylcholinesterase (AChE) inhibitors. Repetitive nerve stimulation showed a significant compound muscle action potential (CMAP) area decrement at 2 or 3 Hz. Nerve conduction studies and concentric needle electromyography were normal, and repetitive CMAPs to single nerve stimulation were not observed. Voluntary single fiber electromyography (SFEMG) showed increased jitter and blocking. Assessment of individual end\u2010plates using SFEMG with intramuscular axonal microstimulation showed no uniform relationship between jitter and the rate of stimulation, consistent with a postsynaptic defect of neuromuscular transmission. Edrophonium eliminated the decremental response to repetitive nerve stimulation, but caused no significant clinical improvement, suggesting an additional mechanism for weakness in these patients.<\/jats:p>","DOI":"10.1002\/mus.880150302","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T03:14:56Z","timestamp":1104549296000},"page":"267-272","source":"Crossref","is-referenced-by-count":4,"title":["A congenital myasthenic syndrome refractory to acetylcholinesterase inhibitors"],"prefix":"10.1002","volume":"15","author":[{"given":"William J.","family":"Triggs","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aleksandar","family":"Beric","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian J.","family":"Butler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suresh M.","family":"Roongta","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":"10.1136\/jnnp.37.12.1336"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.35.1.41"},{"key":"e_1_2_1_4_2","first-page":"611","article-title":"Congenital myasthenia with increased numbers of acetylcholine receptors at neuromuscular junctions","volume":"8","author":"Cornblath DR","year":"1985","journal-title":"Muscle Nerve"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.11.1135"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410010403"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410110603"},{"key":"e_1_2_1_8_2","first-page":"1925","volume-title":"Myology: Basic and Clinical","author":"Engel AG","year":"1986"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1177\/088307388800300402"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1978.00500260035009"},{"key":"e_1_2_1_11_2","first-page":"449","article-title":"Familial myasthenic myopathy","volume":"21","author":"Johns TR","year":"1971","journal-title":"Neurology"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880090307"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneurpsyc.1949.02310180046006"},{"key":"e_1_2_1_14_2","first-page":"393","volume-title":"Neuromuscular transmission","author":"Magleby KL","year":"1986"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/89.1.121"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.10.11.1007"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.2.206"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/104.2.279"},{"issue":"6","key":"e_1_2_1_19_2","first-page":"667","article-title":"Myasthenia gravis with features resembling muscular dystrophy","volume":"1956","author":"Rowland LP","journal-title":"Neurology"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880110410"},{"key":"e_1_2_1_21_2","first-page":"1","volume-title":"Single Fiber Electromyography","author":"Stalberg E","year":"1979"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-102-6-842"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.49.6.677"},{"key":"e_1_2_1_24_2","article-title":"Single motor end paltes in myasthenia gravis and Lambert\u2010Eaton myasthenic syndrome at different firing rates","author":"Trontelj JV","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(79)90918-8"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880040407"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.19.3.224"},{"key":"e_1_2_1_28_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.39.12.1145"}],"container-title":["Muscle &amp; 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