CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.

Abstract excerpt

Myotonia congenita (MC) is a genetic disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1) encoding the skeletal muscle chloride channel (ClC-1). Mutations of CLCN1 result in either autosomal dominant MC (Thomsen disease) or autosomal recessive MC (Becker disease). The ClC-1 protein is a homodimer with a separate ion pore within each monomer. Mutations causing recessive myotonia most...

Topics

• Adolescent
• Adult
• Chloride Channels
• Czech Republic
• Female
• Humans
• Male
• Models, Molecular
• Muscle, Skeletal
• Mutation
• Mutation, Missense
• Myotonia Congenita
• Phenotype