Myasthenic syndrome AChRα C-loop mutant disrupts initiation of channel gating

Congenital myasthenic syndromes (CMSs) are neuromuscular disorders that can be caused by defects in ace­tylcholine receptor (AChR) function. Disease-associated point mutants can reveal the unsuspected functional significance of mutated residues. We identified two pathogenic mutations in the extracel...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Shen, Xin-Ming, Brengman, Joan M., Sine, Steven M., Engel, Andrew G.
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Clinical Investigation 2012
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3386830/
https://ncbi.nlm.nih.gov/pubmed/22728938
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI63415
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares