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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Detalles Bibliográficos
Autores principales: 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.
Formato: Texto
Lenguaje:English
Publicado: The Rockefeller University Press 2000
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2233692/
https://www.ncbi.nlm.nih.gov/pubmed/10962020

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2233692/
https://www.ncbi.nlm.nih.gov/pubmed/10962020

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