Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease)

Eur J Hum Genet. 2018 Jul;26(7):1072-1077. doi: 10.1038/s41431-017-0065-3. Epub 2018 Apr 26.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / genetics*
  • Genes, Dominant / genetics*
  • Humans
  • Myotonia Congenita / diagnosis
  • Myotonia Congenita / genetics*
  • Pedigree