Congenital myasthenic syndromes: recent advances
Congenital myasthenic syndromes (CMS) can arise from presynaptic, synaptic, or
postsynaptic defects. Mutations of the acetylcholine receptor (AChR) that increase or
decrease the synaptic response to acetylcholine (ACh) are a common cause of the
postsynaptic CMS. An increased response occurs in the slow-channel syndromes. Here,
dominant mutations in different AChR subunits and in different domains of the subunits
prolong the activation episodes of AChR by either delaying channel closure or increasing …
postsynaptic defects. Mutations of the acetylcholine receptor (AChR) that increase or
decrease the synaptic response to acetylcholine (ACh) are a common cause of the
postsynaptic CMS. An increased response occurs in the slow-channel syndromes. Here,
dominant mutations in different AChR subunits and in different domains of the subunits
prolong the activation episodes of AChR by either delaying channel closure or increasing …
