Genetic study of somatic mosaicism in a patient with myotonic dystrophy type 1: case report

Acta Myol. 2003 Dec;22(3):104-5.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Chromosomes, Human, Pair 19 / genetics
  • Echocardiography
  • Electrocardiography
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Hypertrophy, Left Ventricular / genetics
  • Lymphocytes / pathology
  • Middle Aged
  • Mosaicism*
  • Myocardium / pathology
  • Myotonic Dystrophy / diagnosis
  • Myotonic Dystrophy / genetics*
  • Protein Kinases / genetics
  • Trinucleotide Repeat Expansion / genetics

Substances

  • Protein Kinases