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.
Engel
A G
AG
Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
Ohno
K
K
Sine
S M
SM
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