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Article

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

1 Mar 2012

Abstract excerpt

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 subunits of the acetylcholine receptor that severely reduce endplate acetylcholine receptor numbers and/or cause kinetic...

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Share to Cellular transport and secretion
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PMID: 22382357
DOI: 10.1093/brain/aws016

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