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

Abstract:

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 abnormalities of acetylcholine receptor function. We tracked the cause of the myast...

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Publication status:
Published

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Publisher copy:
10.1093/brain/aws016

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Journal:
Brain : a journal of neurology More from this journal
Volume:
135
Issue:
Pt 4
Pages:
1070-1080
Publication date:
2012-04-01
DOI:
EISSN:
1460-2156
ISSN:
0006-8950

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