Molecular and clinical study of two myotonic dystrophy homozygotes

J Med Genet. 2001 Nov;38(11):E40. doi: 10.1136/jmg.38.11.e40.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Alleles
  • DNA / genetics
  • Female
  • Homozygote
  • Humans
  • Myotonic Dystrophy / genetics*
  • Myotonic Dystrophy / pathology
  • Myotonin-Protein Kinase
  • Protein Serine-Threonine Kinases / genetics
  • Trinucleotide Repeat Expansion / genetics
  • Trinucleotide Repeats / genetics

Substances

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