Abstract
Congenital myasthenic syndromes (CMSs) stem from defects in endplate-associated proteins that compromise the safety margin of neuromuscular transmission by one or more distinct mechanisms. The identified syndromes stem from defects of choline acetyltransferase, acetylcholinesterase, β2-laminin, acetylcholine receptor subunits, rapsyn, MuSK, agrin, Dok-7, Nav1.4, and plectin. Distinct clinical clues can point to the disease protein but sometimes electrophysiological, structural, and genetic studies are required for diagnosis. Different types of CMSs mandate different types of therapy.
| Original language | English (US) |
|---|---|
| Title of host publication | Neuromuscular Disorders |
| Publisher | Wiley-Blackwell |
| Pages | 142-149 |
| Number of pages | 8 |
| ISBN (Print) | 0470654562, 9780470654569 |
| DOIs | |
| State | Published - Sep 6 2011 |
Keywords
- Choline acetyltransferase deficiency
- Congenital myasthenic syndromes (CMSs)
- Dok-7 myasthenia
- Edrophonium test
- Endplate AChE deficiency
- Endplate AChR deficiency from receptor mutations
- MuSK role in maturation and synapse
- Prenatal CMS with fetal akinesia
- Slow-channel CMSs and sodium-channel myasthenia
- Slow-channel syndrome
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Neurology
- Clinical Neurology
- Genetics(clinical)