Trinucleotide repeat contraction: a pitfall in prenatal diagnosis of myotonic dystrophy

J Med Genet. 2001 Dec;38(12):850-2. doi: 10.1136/jmg.38.12.850.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Alleles
  • Blotting, Southern
  • DNA Mutational Analysis
  • Female
  • Fetus / metabolism*
  • Genetic Linkage / genetics
  • Humans
  • Male
  • Microsatellite Repeats / genetics
  • Middle Aged
  • Mutagenesis / genetics*
  • Myotonic Dystrophy / genetics*
  • Myotonin-Protein Kinase
  • Pedigree
  • Polymerase Chain Reaction
  • Pregnancy
  • Prenatal Diagnosis*
  • Protein Serine-Threonine Kinases / genetics*
  • Trinucleotide Repeat Expansion / genetics*

Substances

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

Associated data

  • OMIM/160900