Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Speer, MC; Pericak-Vance, MA; Yamaoka, L; Hung, WY; Ashley, A; Stajich, JM; Roses, AD

Published Date

  • April 1990

Published In

Volume / Issue

  • 40 / 4

Start / End Page

  • 671 - 676

PubMed ID

  • 2320244

International Standard Serial Number (ISSN)

  • 0028-3878

Digital Object Identifier (DOI)

  • 10.1212/wnl.40.4.671


  • eng

Conference Location

  • United States