Article
The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
International journal of molecular sciences - 5 Jun 2018
Rodríguez Cruz Pedro M, Palace Jacqueline, Beeson David
Abstract excerpt
Congenital myasthenic syndromes (CMS) are genetic disorders characterised by impaired neuromuscular transmission. This review provides an overview on CMS and highlights recent advances in the field, including novel CMS causative genes and improved therapeutic strategies. CMS due to mutations in SLC5A7 and SLC18A3, impairing the synthesis and recycling of acetylcholine, have recently been described. In addition, a...
Topics
- Acetylcholine
- Genetic Heterogeneity
- Humans
- Mutation
- Myasthenic Syndromes, Congenital
- Neuromuscular Junction
- Phenotype
- Receptors, Cholinergic
- Synaptic Transmission