Article
Congenital myasthenic syndromes: increasingly complex.
Current opinion in neurology - 1 Oct 2024
Ramdas Sithara, Beeson David, Dong Yin Yao
Abstract excerpt
PURPOSE OF REVIEW: Congenital myasthenia syndromes (CMS) are treatable, inherited disorders affecting neuromuscular transmission. We highlight that the involvement of an increasing number of proteins is making the understanding of the disease mechanisms and potential treatments progressively more complex. RECENT FINDINGS: Although early studies identified mutations of proteins directly involved in synaptic...
Topics
- Humans
- Myasthenic Syndromes, Congenital
- Neuromuscular Junction
- Mutation
- Synaptic Transmission