Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease)

Arch Ital Biol. 2017 Dec 1;155(4):118-130. doi: 10.12871/000398292017410.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Chloride Channels / chemistry*
  • Chloride Channels / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Myotonia Congenita / genetics*
  • Protein Structure, Quaternary

Substances

  • CLC-1 channel
  • Chloride Channels