Fundamental Gating Mechanism of Nicotinic Receptor Channel Revealed by Mutation Causing a Congenital Myasthenic Syndrome

We describe the genetic and kinetic defects in a congenital myasthenic syndrome due to the mutation εA411P in the amphipathic helix of the acetylcholine receptor (AChR) ε subunit. Myasthenic patients from three unrelated families are either homozygous for εA411P or are heterozygous and harbor a null...

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Bibliographische Detailangaben
Hauptverfasser: Wang, Hai-Long, Ohno, Kinji, Milone, Margherita, Brengman, Joan M., Evoli, Amelia, Batocchi, Anna-Paola, Middleton, Lefkos T., Christodoulou, Kyproula, Engel, Andrew G., Sine, Steven M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: The Rockefeller University Press 2000
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2233692/
https://ncbi.nlm.nih.gov/pubmed/10962020
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