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...

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Hauptverfasser: Shen, Xin-Ming, Brengman, Joan M., Sine, Steven M., Engel, Andrew G.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2012
Schlagworte:
Research Article
Online Zugang: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
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