Article
Patients with congenital myasthenia associated with end-plate acetylcholinesterase deficiency show normal sequence, mRNA splicing, and assembly of catalytic subunits.
The Journal of clinical investigation - 1 Jan 1995
Camp S, Bon S, Li Y, Getman D K, Engel A G, Massoulié J, Taylor P
Abstract excerpt
A congenital myasthenic condition has been described in several patients characterized by a deficiency in end-plate acetylcholinesterase (AChE). The characteristic form of AChE in the end-plate basal lamina has the catalytic subunits disulfide linked to a collagen-like tail unit. Southern analysi...
Topics
- Acetylcholinesterase
- Adolescent
- Adult
- Alleles
- Alternative Splicing
- Child
- Cloning, Molecular
- Female
- Genome, Human
- Humans
- Infant
- Male
- Motor Endplate
- Neuromuscular Diseases
- Polymerase Chain Reaction