Article
Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor epsilon subunit.
Neuron - 1 Jul 1996
Ohno K, Wang H L, Milone M, Bren N, Brengman J M, Nakano S, Quiram P, Pruitt J N, Sine S M, Engel A G
Abstract excerpt
We describe the genetic and kinetic defects for a low-affinity fast channel disease of the acetylcholine receptor (AChR) that causes a myasthenic syndrome. In two unrelated patients with very small miniature end plate (EP) potentials, but with normal EP AChR density and normal EP ultrastructure,...
Topics
- Acetylcholine
- Amino Acid Sequence
- Base Sequence
- Binding, Competitive
- Cell Line
- Electrophysiology
- Humans
- Kinetics
- Lambert-Eaton Myasthenic Syndrome
- Molecular Probes
- Molecular Sequence Data
- Mutation
- Patch-Clamp Techniques
- Receptors, Cholinergic