Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies

Neurology. 1990 Apr;40(4):671-6. doi: 10.1212/wnl.40.4.671.


Myotonic dystrophy (DM) is an autosomal dominant disorder with age-dependent penetrance and extremely variable expressivity. With the genetic markers CKMM and ApoC2, both of which are tightly linked and centromeric to DM, presymptomatic and prenatal diagnosis for myotonic dystrophy is available. We present the results of 4 families tested for carrier status of myotonic dystrophy by genetic linkage studies and define potential limitations of these studies. A protocol for genetic linkage studies in DM is outlined.

Publication types

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

MeSH terms

  • Adult
  • Alleles
  • Apolipoprotein C-II
  • Apolipoproteins C / genetics
  • Carrier State
  • Creatine Kinase / genetics
  • Diseases in Twins
  • Female
  • Genetic Linkage*
  • Genetic Markers / analysis
  • Humans
  • Isoenzymes
  • Male
  • Myotonic Dystrophy / diagnosis
  • Myotonic Dystrophy / genetics*
  • Pedigree
  • Polymorphism, Genetic
  • Pregnancy
  • Prenatal Diagnosis*
  • Twins, Monozygotic


  • Apolipoprotein C-II
  • Apolipoproteins C
  • Genetic Markers
  • Isoenzymes
  • Creatine Kinase