A recurrent 14 bp deletion in the CLCN1 gene associated with generalized myotonia (Becker)

Hum Mol Genet. 1994 Jun;3(6):1015-6. doi: 10.1093/hmg/3.6.1015.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chloride Channels / genetics*
  • Chromosomes, Human, Pair 7
  • Exons
  • Female
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Molecular Sequence Data
  • Muscles / metabolism
  • Muscular Dystrophies / genetics*
  • Pedigree
  • Point Mutation
  • Protein Structure, Secondary
  • Sequence Deletion*

Substances

  • Chloride Channels