Article
The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.
Current opinion in neurology - 1 Oct 2019
Vanhaesebrouck An E, Beeson David
Abstract excerpt
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins whose function is essential for the integrity of neuromuscular transmission. This review updates the reader on the expanding phenotypic spectrum and suggested improved treatment strategies. RECENT FINDINGS: As next-generation sequencing is taken into the clinic,...
Topics
- Genotype
- High-Throughput Nucleotide Sequencing
- Humans
- Mutation
- Myasthenic Syndromes, Congenital
- Neuromuscular Junction
- Phenotype
- Synapses
- Synaptic Transmission