Presynaptic Congenital Myasthenic Syndromes.

Abstract excerpt

Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic vesicle release is impaired. The latter is often referred to as a...

Topics

• Humans
• Myasthenic Syndromes, Congenital
• Animals
• Acetylcholine
• Presynaptic Terminals
• Mutation
• Neuromuscular Junction