Detection of a premutation in Japanese myotonic dystrophy

Hum Mol Genet. 1994 May;3(5):819-20. doi: 10.1093/hmg/3.5.819.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Alleles*
  • Cataract / genetics
  • Genes, Dominant
  • Genetic Predisposition to Disease
  • Humans
  • Japan
  • Male
  • Myotonic Dystrophy / ethnology
  • Myotonic Dystrophy / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Repetitive Sequences, Nucleic Acid