Article
Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation.
Annals of neurology - 1 Sept 2000
Sieb J P, Kraner S, Schrank B, Reitter B, Goebel T H, Tzartos S J, Steinlein O K
Abstract excerpt
Recently, a congenital myasthenic syndrome (CMS) with end-plate acetylcholine receptor (AChR) deficiency due to missense mutations in the genes for the AChR subunit was described. The first observed patient with this CMS was heteroallelic for the two epsilon-AChR subunit mutations epsilon1101insT and epsilon1293insG. This patient had only a moderate phenotype with mild muscle weakness and abnormal fatigue. We...
Topics
- Adult
- Female
- Haplotypes
- Homozygote
- Humans
- Muscles
- Mutation
- Myasthenic Syndromes, Congenital
- Pedigree
- Receptors, Cholinergic