Article
Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression.
Human mutation - 1 Aug 2004
Simpson Bronwyn J, Height Tamara A, Rychkov Grigori Y, Nowak Kristen J, Laing Nigel G, Hughes Bernard P, Bretag Allan H
Abstract excerpt
Two novel mutations of the human CLCN1 chloride channel gene, c.592C>G (p.L198V) and c.2255A>G (p.K752R), are described, occurring coincidentally in the one myotonic patient. These individual mutations and a construct with both mutations in the one cDNA were transcribed and expressed in Xenopus oocytes where channel gating parameters were extracted from chloride currents recorded under voltage clamp. We found...
Topics
- Black or African American
- Animals
- Child
- Child, Preschool
- Chloride Channels
- Cloning, Molecular
- Female
- Gene Expression Regulation
- Humans
- Ion Channel Gating
- Kidney
- Male
- Mutation
- Myotonia Congenita