Congential myasthenic syndromes

In recent years, some genetic diseases of neuromuscular transmission were characterized and investigated on a molecular level. Presynaptic as well as postsynaptic defects disturb neuromuscular transmission. Most of the newly characterized diseases show mutations of the nicotinic acetylcholine receptor gene. By means of the patch-clamp technique it was possible to investigate single channel kinetics of mutated channels and to compare the results with data from normal receptors. Using recombinant receptors expressed in cultured cells will allow further analysis of these defects on a molecular level. This review gives an update overview of pathogenetic and clinical aspects as well as of therapeutic strategies of these rare neuromuscular disorders.