A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance.

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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...

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Bibliografiske detaljer
Main Authors:	Webster, R, Maxwell, S, Spearman, H, Tai, K, Beckstein, O, Sansom, M, Beeson, D
Format:	Journal article
Sprog:	English
Udgivet:	2012

Lignende værker

A novel congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel conductance
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Impaired neurotransmission in a mouse model of the slow channel congenital myasthenic syndrome is improved by the sympathomimetic drug ephedrine
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Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1
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