Article
Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 1 Aug 1997
Milone M, Wang H L, Ohno K, Fukudome T, Pruitt J N, Bren N, Sine S M, Engel A G
Abstract excerpt
We describe a novel genetic and kinetic defect in a slow-channel congenital myasthenic syndrome. The severely disabled propositus has advanced endplate myopathy, prolonged and biexponentially decaying endplate currents, and prolonged acetylcholine receptor (AChR) channel openings. Genetic analysi...
Topics
- Acetylcholine
- Base Sequence
- Child
- Humans
- Ion Channels
- Male
- Molecular Sequence Data
- Mutation
- Myasthenia Gravis
- Patch-Clamp Techniques
- Receptors, Cholinergic