Presymptomatic testing in myotonic dystrophy: genetic counselling approaches

J Med Genet. 2001 Dec;38(12):846-50. doi: 10.1136/jmg.38.12.846.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Child, Preschool
  • DNA Mutational Analysis / methods
  • Female
  • Genetic Counseling / methods*
  • Genetic Testing*
  • Humans
  • Infant
  • Male
  • Mutation / genetics*
  • Myotonic Dystrophy / diagnosis*
  • Myotonic Dystrophy / genetics*
  • Myotonin-Protein Kinase
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis / methods
  • Protein Serine-Threonine Kinases / genetics*
  • Trinucleotide Repeat Expansion / genetics*
  • Wales

Substances

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