Congenital myasthenic syndromes in 2012.

doi:10.1007/s11910-011-0234-7

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Article

Congenital myasthenic syndromes in 2012.

Current neurology and neuroscience reports - 1 Feb 2012

Engel Andrew G

Abstract excerpt

Congenital myasthenic syndromes (CMS) represent a heterogeneous group of disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Clinical, electrophysiologic, and morphologic studies have paved the way for detecting CMS-related mutations in proteins residing in the nerve terminal, the synaptic basal lamina, or in the postsynaptic region of the motor...

Topics

Acetylcholinesterase
Humans
Ion Channels
Mutation
Myasthenic Syndromes, Congenital
Neuromuscular Junction
Receptors, Cholinergic
Synaptic Transmission

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Identifiers

PMID: 21997714
DOI: 10.1007/s11910-011-0234-7
PMCID: PMC4209912

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