[Molecular bases and therapeutic strategies in defective neuromuscular transmissions: lessons learned from a prototypical synapse].

Abstract excerpt

Neuromuscular junction is a prototypical synapse, and most synaptic molecules expressed in the central nervous system have been first identified at the neuromuscular junction. Congenital myasthenic syndromes are caused by genetic defects of molecules expressed at the neuromuscular junction. We have identified and characterized five defective molecules. (1) Defects in choline acetyltransferase reduce acetylcholine...

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