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Article

Current understanding of congenital myasthenic syndromes.

Current opinion in pharmacology - 1 Jun 2005

Engel Andrew G, Sine Steven M

Abstract excerpt

Investigation of congenital myasthenic syndromes (CMSs) disclosed a diverse array of molecular targets at the motor endplate. Clinical, electrophysiologic and morphologic studies paved the way for detecting CMS-related mutations in proteins such as the acetylcholine receptor, acetylcholinesterase, choline acetyltransferase, rapsyn, MuSK and Na(v)1.4. Analysis of electrophysiologic and biochemical properties of...

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Source

Identifiers

PMID: 15907919
DOI: 10.1016/j.coph.2004.12.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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