Article
Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.
Human molecular genetics - 1 May 1997
Croxen R, Newland C, Beeson D, Oosterhuis H, Chauplannaz G, Vincent A, Newsom-Davis J
Abstract excerpt
Congenital myasthenic syndromes are a group of rare genetic disorders that compromise neuromuscular transmission. A subset of these disorders, the slow-channel congenital myasthenic syndrome (SCCMS), is dominantly inherited and has been shown to involve mutations within the muscle acetylcholine r...
Topics
- Adolescent
- Adult
- Amino Acid Sequence
- Animals
- Binding Sites
- Electrophysiology
- Female
- Heterozygote
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Muscles
- Mutation
- Myasthenia Gravis
- Oocytes
- Patch-Clamp Techniques
- Polymorphism, Single-Stranded Conformational