Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
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Review
MeSH terms
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Frameshift Mutation
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Humans
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Models, Molecular
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Mutation*
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Myasthenia Gravis / congenital*
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Myasthenia Gravis / genetics*
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Myasthenia Gravis / physiopathology
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Protein Structure, Secondary*
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Receptors, Cholinergic / biosynthesis
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Receptors, Cholinergic / chemistry
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Receptors, Cholinergic / genetics*
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Sequence Deletion
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Syndrome