Further Observations in Congenital Myasthenic Syndromes
During the past fiveyears many patients suffering from congenital myasthenic syndromes (CMS) have been identified worldwide and novel causative genes and mutations have been discovered. The disease genes now include those encoding each subunit of the acetylcholine receptor (AChR), the ColQ part of acetylcholinesterase (AChE), choline acetyltransferase, Nav1.4, MuSK, and Dok-7. Moreover, emerging genotypephenotype correlations are providing clues for targeted mutation analysis. This review focuses on the recent observations in selected CMS.
congenital myasthenic syndromes acetylcholine receptor acetylcholinesterase choline acetyltransferase dok-7