New horizons for congenital myasthenic syndromes.

Abstract

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 of deleterious mutations in the intermediate filament linker plectin, altered neuromuscular transmission in a centronuclear myopathy, and two recently identified CMS caused by congenital defects in glycosylation.

• Authors: Andrew G Engel, Xin-Ming Shen, Duygu Selcen, Steven Sine
• Journal: Annals of the New York Academy of Sciences (Ann N Y Acad Sci) Vol. 1275 Pg. 54-62 (Dec 2012) ISSN: 1749-6632 [Electronic] United States
• PMID: 23278578 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Review)
• Copyright: © 2012 New York Academy of Sciences.

Chemical References

• Plectin
• Receptors, Cholinergic
• Choline O-Acetyltransferase
• Transferases (Other Substituted Phosphate Groups)
• UDPacetylglucosamine-dolichyl-phosphate acetylglucosamine-1-phosphate transferase

Topics

• Choline O-Acetyltransferase (chemistry, genetics, metabolism)
• Glycosylation
• Humans
• Models, Molecular
• Mutation
• Myasthenic Syndromes, Congenital (enzymology, genetics, metabolism)
• Plectin (genetics)
• Receptors, Cholinergic (genetics)
• Transferases (Other Substituted Phosphate Groups) (genetics)