Abstract:About 20 % of the identified cases of congenital myasthenic syndromes are due to defects causing\ud
overstimulation of endplate ACh receptors, with consequent excessive Ca2+ entry, endplate structural\ud
damage, and impairment of the neuromuscular transmission. Overstimulation arises from extended\ud
dwelling of ACh in the synaptic cleft because of absence of acetylcholine esterase or from prolonged\ud
activation of “slow-channel” mutant ACh receptors. The high Ca2+ permeability of human endplate ACh\ud
recept… Show more
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