Congenital Myasthenic Syndromes (CMS) Due to Impaired Principal Coupling Pathway in the ɛ Subunit of Muscle Acetylcholine Receptor (AChR) (P2.031)
Articles > Article · 2018
Authors: Xin-Ming Shen, Joan Brengman, Shelley Shen, Hacer Durmus, Veeramani Preethish-Kumar, Ayşe Nur YÜCEYAR, Seena Vengalil, Atchayaram Nalini, Feza Deymeer, Steven Sine, Andrew Engel
Neurology, International, WoS, 2018, vol 90
DOI: 10.1212/wnl.90.15_supplement.p2.031
Summary
To characterize the molecular genetic and electrophysiologic basis of three fast CMS and delineate the signaling pathway from the agonist binding site to the channel gate in the AChR-ɛ-subunit.