Further observations in congenital myasthenic syndromes.
During the past five years 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, Na(v)1.4, MuSK, and Dok-7. Moreover, emerging genotype-phenotype correlations are providing clues for targeted mutation analysis. This review focuses on the recent observations in selected CMS.
Engel
Andrew G
AG
Department of Neurology and Muscle Research Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA. age@mayo.edu
Shen
Xin-Ming
XM
Selcen
Duygu
D
Sine
Steven M
SM
D000110:Acetylcholinesterase / Q000737:chemistry / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D000818:Animals; D006801:Humans; D007700:Kinetics; D009124:Muscle Proteins / Q000235:genetics / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D020294:Myasthenic Syndromes, Congenital / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D021122:Protein Subunits / Q000737:chemistry / Q000235:genetics / Q000378:metabolism
D009124:Muscle Proteins; D021122:Protein Subunits; D000110:Acetylcholinesterase