Congenital myasthenic syndromes: experiments of nature.
Congenital myasthenic syndromes (CMS) can arise from presynaptic, synaptic, or postsynaptic defects. Recent studies indicate that mutations in the acetylcholine receptor (AChR) subunit genes are a common cause of the postsynaptic CMS. The mutations, which increase or decrease the response to acetylcholine, are experiments of nature that highlight functionally significant domains of the AChR.
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
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Engel
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D016368:Frameshift Mutation; D006801:Humans; D008958:Models, Molecular; D009154:Mutation; D009157:Myasthenia Gravis / Q000151:congenital* / Q000235:genetics* / Q000503:physiopathology; D017433:Protein Structure, Secondary; D011950:Receptors, Cholinergic / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D017384:Sequence Deletion; D013577:Syndrome
D011950:Receptors, Cholinergic