126th international workshop: congenital myasthenic syndromes, 24-26 September 2004, Naarden, The Netherlands
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A newly recognized congenital myasthenic syndrome attributed to a prolonged open time of the acetylcholine-induced ion channel
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New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
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A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin
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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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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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Three novel COLQ mutations and variation of phenotypic expressivity due to G240X
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