Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1

Clin Genet. 2007 Jan;71(1):93-4. doi: 10.1111/j.1399-0004.2006.00725.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Chromatography, High Pressure Liquid
  • Chromosomes, Human, Pair 19 / genetics*
  • Fatal Outcome
  • Female
  • Humans
  • Mutation, Missense / genetics*
  • Myotonic Dystrophy / genetics*
  • Myotonic Dystrophy / pathology*
  • Polymerase Chain Reaction
  • Ryanodine Receptor Calcium Release Channel / genetics*
  • Sequence Analysis, DNA

Substances

  • Ryanodine Receptor Calcium Release Channel