Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient

Neurogenetics. 2014 Aug;15(3):213-4. doi: 10.1007/s10048-014-0402-4. Epub 2014 Apr 5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Chloride Channels / genetics*
  • DNA Repeat Expansion
  • Female
  • Humans
  • Mutation, Missense
  • Myotonia Congenita / complications
  • Myotonia Congenita / diagnosis
  • Myotonia Congenita / genetics*
  • Myotonic Dystrophy / complications
  • Myotonic Dystrophy / diagnosis
  • Myotonic Dystrophy / genetics*
  • Myotonin-Protein Kinase / genetics*
  • Young Adult

Substances

  • CLC-1 channel
  • Chloride Channels
  • DMPK protein, human
  • Myotonin-Protein Kinase