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Article

New horizons for congenital myasthenic syndromes.

Annals of the New York Academy of Sciences - 1 Dec 2012

Engel Andrew G, Shen Xin-Ming, Selcen Duygu, Sine Steven

Abstract excerpt

During the past five years an increasing number of patients have been diagnosed with congenital myasthenic syndromes (CMS) and a number of novel syndromes have been recognized and investigated. This presentation focuses on the CMS caused by defects in choline acetyltransferase, novel fast-channel syndromes that hinder isomerization of the acetylcholine receptor from the closed to the open state, the consequences...

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Share to Choline O-Acetyltransferase
Share to Glycosylation
Share to Models, Molecular

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myasthenic Syndromes, Congenital

Share to Plectin

Share to Receptors, Cholinergic

Share to Transferases (Other Substituted Phosphate Groups)

Source

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Identifiers

PMID: 23278578
DOI: 10.1111/j.1749-6632.2012.06803.x
PMCID: PMC3546605

Provenance

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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