Article
[Congenital myasthenic syndromes in adulthood : Challenging, rare but treatable].
Der Nervenarzt - 1 Feb 2019
Wunderlich G, Abicht A, Brunn A, Daimagüler H-S, Schroeter M, Fink G R, Lehmann H C, Cirak S
Abstract excerpt
The congenital myasthenic syndromes (CMS) represent a heterogeneous group of diseases with a broad spectrum of phenotypes. The common characteristic is an inherited genetic defect of the neuromuscular junction. Although in some patients the specific gene defect remains to be detected, the increasing identification of causative genes in recent years has already provided unique insights into the functionality of...
Topics
- Adult
- Diagnosis, Differential
- Humans
- Myasthenic Syndromes, Congenital
- Neuromuscular Junction
- Neurotransmitter Agents
- Phenotype