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• W2020333924 abstract "Annals of the New York Academy of SciencesVolume 681, Issue 1 p. 425-434 The Investigation of Congenital Myasthenic Syndromesa ANDREW G. ENGEL, ANDREW G. ENGEL Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905Search for more papers by this author ANDREW G. ENGEL, ANDREW G. ENGEL Department of Neurology, Mayo Clinic, Rochester, Minnesota 55905Search for more papers by this author First published: June 1993 https://doi.org/10.1111/j.1749-6632.1993.tb22927.xCitations: 40 a Work in the author's laboratory was supported by Grant NS 6277 from the National Institues of Health and by a Research Grant from the Muscular Dystrophy Association. AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL References 1 Engel, A. G., E. H. Lambert & M. R. Gomez. 1977. A new myasthenic syndrome with end-plate acetylcholinesterase deficiency, small nerve terminals, and reduced acetylcholine release. Ann. Neurol. 1: 315– 330. 2 Hutchinson, D. O., A. G. Engel, T. J. Walls, S. Nakano, S. Camp, P. Taylor, C. M. Harper & J. M. Brengman. 1993. The spectrum of congenital end-plate acetylcholinesterase deficiency. Ann. N.Y. Acad. Sci. This volume. 3 Engel, A. G., E. H. Lambert, D. M. Mulder, C. F. Torres, K. Sahashi, T. E. Bertorini & J. N. Whitaker. 1982. A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel. Ann. Neurol. 11: 553– 569. 4 Engel, A. G., D. O. Hutchinson, S. Nakano, L. Murphy, R. C. Griggs, Y. Gu, Z. W. Hall & J. Lindstrom. 1993. Myasthenic syndromes attributed to mutations affecting the epsilon subunit of the acetylcholine receptor. Ann. N.Y. Acad. Sci. This volume. 5 Mora, M., E. H. Lambert & A. G. Engel. 1987. Synaptic vesicle abnormality in familial infantile myasthenia. Neurology 37: 206– 214. 6 Walls, T. J., A. G. Engel, A. S. Nagel, M. C. Harper & V. F. Trastek. 1993. Congenital myasthenic syndromes associated with paucity of synaptic vesicles and reduced quantal release. Ann. N.Y. Acad. Sci. This volume. 7 Del Castillo, J. & B. Katz. 1954. Quantal components of the end-plate potential. J. Physiol. (Lond.) 124: 560– 573. 8 Elmqvist, D. & D. M. J. Quastel. 1965. A quantitative study of end-plate potentials in isolated human muscle. J. Physiol. (Lond.). 178: 505– 529. 9 Hutchinson, D. O., S. Nakano, J. P. Sieb & A. G. Engel. 1993. Patch clamp analysis of the slow channel myasthenic syndrome. Neurology. In press. (Abstract). 10 Katz, B. & S. Thesleff. 1957. On the factors which determine the amplitude of the miniature end-plate potential'. J. Physiol. (Lond.). 137: 267– 278. 11 Mcmahan, U. J., J. S. Sanes & L. M. Marshall. 1978. Cholinesterase is associated with the basal lamina of the neuromuscular junction. Nature 271: 172– 174. 12 Vincent, A., S. G. Cull-Candy, J. Newsom-Davis, A. Trautmann, P. C. Molenaar & R. L. Polar. 1981. Congenital myasthenia: End-plate acetylcholine receptors and electrophysiology in five cases. Muscle & Nerve 4: 306– 318. 13 Wokke, J. H. J., F. G. I. Jennekens, P. C. Molenaar, C. J. M. Van den Ord, B. S. Den & H. F. M. Busch. 1989. Congenital paucity of secondary synaptic clefts (CPSC) syndrome in 2 adult sibs. Neurology 39: 648– 654. 14 Coers, C. & N. Teleman-Toppet. 1976. Morphological and histochemical changes of motor units in myasthenia. Ann. N.Y. Acad. Sci. 274: 6– 19. 15 Engel, A. G. 1986. Quantitative morphological studies of muscle. In Myology. A. G. Engel & B. Q. Banker, Eds.: 1045– 1079. McGraw-Hill. New York . 16 Uchitel, O., A. G. Engel, T. J. Walls, A. Nagel, V. Brill & V. F. Trastek. 1993. Congenital myasthenic syndrome attributed to an abnormal interaction of acetylcholine with its receptor. Ann. N.Y. Acad. Sci. This volume. 17 Engel, A. G. 1986. Quantitative morphologic studies of muscle. In Myology. A. G. Engel & B. Q. Banker, Eds.: 1045– 1078. McGraw-Hill. New York . 18 Engel, A. G., J. Lindstrom, E. H. Lambert & V. A. Lennon. 1977. Ultrastructural localization of the acetylcholine receptor in myasthenia gravis and in its experimental autoimmune model. Neurology 27: 307– 315. 19 Maselli, R., D. P. Mass, B. J. Distad & D. Richman. 1991. Anconeus muscle: A human muscle preparation suitable for in-vitro microelectrode studies. Muscle & Nerve 14: 1189– 1192. 20 Engel, A. G. 1987. The molecular biology of end-plate diseases. In The Vertebrate Neuromuscular Junction. M. M. Salpeter, Ed.: 361– 424. Alan Liss. New York . 21 M. M. Salpeter. 1987. Vertebrate neuromuscular junctions: General morphology, molecular organization, and functional consequences. In The Vertebrate Neuromuscular Junction. M. M. Salpeter, Ed.: 1– 54. Alan Liss. New York . 22 Katz, B. & R. Miledi. 1972. The statistical nature of the acetylcholine potential and its molecular components. J. Physiol. (Lond.) 224: 665– 699. 23 Anderson, C. R. & C. F. Stevens. 1973. Voltage clamp analysis of acetylcholine produced end-plate current fluctuations at frog neuromuscular junction. J. Physiol. (Lond.) 235: 655– 691. 24 Fatt, P. & B. Katz. 1952. Spontaneous subthreshold activity at motor nerve endings. J. Physiol. (Lond.) 117: 109– 128. 25 Magleby, K. L. 1986. Neuromuscular transmission. In Myology. A. G. Engel & B. Q. Banker, Eds.: 393– 418. McGraw-Hill. New York . 26 Colquhoun, D. & A. G. Hawkes. 1983. The principles of the stochastic interpretation of ion channel mechanisms. In Single-Channel Recording. B. Sakmann & E. Neher, Eds.: 135– 175. Plenum. New York . 27 Martin, A. R. 1955. A further study of the statistical composition of the end-plate potential. J. Physiol. (Lond.) 130: 114– 122. 28 Kamenskaya, M. A., D. Elqvist & S. Thesleff. 1975. Guanidine and neuromuscular transmission. II. Effect on transmitter release in response to repetitive stimulation. Arch. Neurol. 32: 510– 518. 29 Nagel, A., A. G. Engel, T. J. Walls, C. M. Harper & H. A. Waisburg. 1993. Congenital end-plate acetylcholine receptor deficiency and short channel open time. Ann. N.Y. Acad. Sci. This volume. 30 Engel, A. G., T. J. Walls, A. Nagel & O. Uchitel. 1990. Newly recognized congenital myasthenic syndromes. I. Congenital paucity of synaptic vesicles and reduced quantal release. II. High-conductance fast-channel syndrome. III. Abnormal acetylcholine receptor (AChR) interaction with acetylcholine. IV. AChR deficiency and short channel open-time. Prog. Brain. Res. 84: 125– 137. 31 Hammill, O. P., A. Marty, E. Neher, B. Sakmann & F. J. Sigworth. 1981. Improved patch-clamp techniques for high-resolution current recording from cell-free membrane patches. Pflügers Arch. 391: 85– 100. 32 Engel, A. G., O. Uchitel, T. J. Walls, A. Nagel & J. Bodensteiner. 1990. Congenital myasthenic syndrome with high conductance and fast closure of the acetylcholine-induced ion channel. Neurology 40(Suppl. 1): 277. (Abstract.). 33 Leonard, R. J., C. J. Labarca, P. Charnet, N. Davidson et al. 1988. Evidence that the M2 membrane spanning region lines the ion channel pore of the nicotinic receptor. Science 242: 1578– 1581. 34 Imoto, K., T. Konno, J. Nakai, F. Wang et al. 1991. A ring of uncharged polar amino acids as a component of channel constriction in the nicotinic acetylcholine receptor. FEBS Lett. 289: 193– 200. 35 Villarroel, A., S. Herlitze, V. Witzemann, M. Koenen et al. 1992. Asymmetry of rat acetylcholine receptor subunits in the narrow region of the pore. Proc. R. Soc. Lond. B. Biol. Sci. 249: 317– 324. Citing Literature Volume681, Issue1Myasthenia Gravis and Related Disorders: Experimental and Clinical AspectsJune 1993Pages 425-434 ReferencesRelatedInformation" @default.
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