A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.
Muscle acetylcholine receptor ion channels mediate neurotransmission by depolarizing the postsynaptic membrane at the neuromuscular junction. Inherited disorders of neuromuscular transmission, termed congenital myasthenic syndromes, are commonly caused by mutations in genes encoding the five subunit...
Κύριοι συγγραφείς: | Webster, R, Maxwell, S, Spearman, H, Tai, K, Beckstein, O, Sansom, M, Beeson, D |
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Μορφή: | Journal article |
Γλώσσα: | English |
Έκδοση: |
2012
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Παρόμοια τεκμήρια
Παρόμοια τεκμήρια
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A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance
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Fast-channel congenital myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit interface.
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A hydrophobic gate in an ion channel: the closed state of the nicotinic acetylcholine receptor.
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