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126th International Workshop: Congenital Myasthenic Syndromes, 24–26 September 2004, Naarden, The Netherlands

2005; Elsevier BV; Volume: 15; Issue: 7 Linguagem: Inglês

10.1016/j.nmd.2005.05.001

1873-2364

David Beeson, Daniel Hantaı̈, Hanns Lochmüller, Andrew G. Engel,

Cancer Treatment and Pharmacology

The ENMC hosted a group of 18 experts on Congenital Myasthenic Syndromes (CMS). CMS are inherited disorders in which the safety margin of the neuromuscular transmission is compromised by one or more specific mechanism(s). CMS are caused by various genetic defects. The objectives of the workshop included progress in deciphering the molecular basis of CMS (sessions 1–4) and clinical conclusions for epidemiology, diagnosis and therapy (sessions 5–7). To date, genes known to cause CMS if mutated are the presynaptic choline acetyltransferase gene CHAT, the gene COLQ encoding the synaptic protein ColQ, the genes encoding the different subunits of the postsynaptic acetylcholine receptor (CHRNA1, CHRNB1, CHRND, CHRNE), the genes for the postsynaptic proteins rapsyn (RAPSN), muscle-specific receptor tyrosine kinase (MUSK) and the postsynaptic sodium channel (SCN4A).