Congenital endplate acetylcholine receptor deficiency (Q92748)

Congenital endplate acetylcholine receptor deficiency is caused by the interruption of the pathway that is believed to be responsible for the stability of the synaptic architecture and for the aggregation and positioning of acetylcholine receptors on the post-synaptic membrane. Molecular defects involves several postsynaptic proteins and lead to either deficiency of the receptor with or without kinetic defects or cause kinetic abnormalities with or without minor acetylcholine receptors deficiency.