[Congenital diseases of neuromuscular transmission: congenital myasthenia syndromes].

Abstract excerpt

The congenital myasthenic syndrome constitute a group of genetic disorders affecting neuromuscular transmission. This group includes presynaptic as well as postsynaptic defects. In several congenital myasthenic syndromes, it was possible to characterize the underlying mechanism by applying modern in vitro electrophysiological methods, like single-channel recordings. These genetic disorders include defects of...

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