| 1 | CHRNA1, CMS1A
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| Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
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| Webster R, Brydson M, Croxen R, Newsom-Davis J, Vincent A, Beeson D.
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| Neurology 62(7):1090-6. 2004
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| 2 | CHRNA1, CMS1A
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| Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.
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| Croxen R, Newland C, Beeson D, Oosterhuis H, Chauplannaz G, Vincent A, Newsom-Davis J.
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| Hum Mol Genet 6(5):767-74. 1997
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| 3 | CHRNA1, CHRNB1, CHRND, CHRNE, CMS1A, CMS2B, CMS4A
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| New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
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| Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM.
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| Hum Mol Genet 5 : 1217-1227. 1996
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| 4 | CHRNA1, CMS1A
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| Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.
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| Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG.
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| Neuron 15 : 229-239. 1995
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| 5 | CHRNA1, CMS1A
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| A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the Slow-Channel syndrome.
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| Gomez CM, et al.
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| Neurology 45 : 982-985. 1995
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