Novel human pathological mutations. Gene symbol: CLCN1. Disease: myotonia congenita, autosomal recessive

Hum Genet. 2007 Nov;122(3-4):413. doi: 10.1007/s00439-007-0411-6.
No abstract available

MeSH terms

  • Amino Acid Substitution
  • Chloride Channels / genetics*
  • Codon / genetics
  • Genes, Recessive
  • Humans
  • Mutation, Missense
  • Myotonia Congenita / genetics*

Substances

  • CLC-1 channel
  • Chloride Channels
  • Codon