Eight years' experience of direct molecular testing for myotonic dystrophy in Wales

J Med Genet. 2001 Dec;38(12):E42. doi: 10.1136/jmg.38.12.e42.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Alleles
  • DNA Mutational Analysis
  • Female
  • Genetic Testing*
  • Genetics, Medical
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics
  • Myotonic Dystrophy / diagnosis*
  • Myotonic Dystrophy / genetics*
  • Myotonin-Protein Kinase
  • Neurology
  • Pediatrics
  • Pedigree
  • Prenatal Diagnosis
  • Protein Serine-Threonine Kinases / genetics*
  • Time Factors
  • Trinucleotide Repeat Expansion / genetics*
  • Wales

Substances

  • DMPK protein, human
  • Myotonin-Protein Kinase
  • Protein Serine-Threonine Kinases