Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature

Am J Med Genet A. 2007 Sep 1;143A(17):2058-61. doi: 10.1002/ajmg.a.31772.
No abstract available

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Female
  • Genes, Dominant
  • Homozygote*
  • Humans
  • Male
  • Middle Aged
  • Myotonic Dystrophy / diagnosis
  • Myotonic Dystrophy / enzymology
  • Myotonic Dystrophy / genetics*
  • Myotonin-Protein Kinase
  • Protein Serine-Threonine Kinases / genetics

Substances

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