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...
Hoofdauteurs: | Webster, R, Maxwell, S, Spearman, H, Tai, K, Beckstein, O, Sansom, M, Beeson, D |
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Formaat: | Journal article |
Taal: | English |
Gepubliceerd in: |
2012
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