Article
[Congenital diseases of neuromuscular transmission: congenital myasthenia syndromes].
Der Nervenarzt - 1 Feb 1995
Sieb J P
Abstract excerpt
The congenital myasthenic syndrome constitute a group of genetic disorders affecting neuromuscular transmission. This group includes presynaptic as well as postsynaptic defects. In several congenital myasthenic syndromes, it was possible to characterize the underlying mechanism by applying modern...
Topics
- Acetylcholine
- Acetylcholinesterase
- Adult
- Child, Preschool
- Humans
- Infant
- Mutation
- Myasthenia Gravis
- Neurologic Examination
- Neuromuscular Junction
- Patch-Clamp Techniques
- Receptors, Cholinergic
- Synaptic Transmission