Congential myasthenic syndromes

In recent years, some genetic diseases of neuromuscular transmission were c haracterized 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 recept or gene. By means of the patch-clamp technique it was possible to investiga te single channel kinetics of mutated channels and to compare the results w ith data from normal receptors. Using recombinant receptors expressed in cu ltured cells will allow further analysis of these defects on a molecular le vel. This review gives an update overview of pathogenetic and clinical aspe cts as well as of therapeutic strategies of these rare neuromuscular disord ers.