Congenital myasthenic syndromes: experiments of nature.

doi:10.1016/S0928-4257(98)80147-2

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Article

Congenital myasthenic syndromes: experiments of nature.

Journal of physiology, Paris - 1 Apr 1998

Engel A G, Ohno K, Sine S M

Abstract excerpt

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 acet...

Topics

Frameshift Mutation
Humans
Models, Molecular
Mutation
Myasthenia Gravis
Protein Structure, Secondary
Receptors, Cholinergic
Sequence Deletion
Syndrome

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