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.
- Speer, MC; Pericak-Vance, MA; Yamaoka, L; Hung, WY; Ashley, A; Stajich, JM; Roses, AD
- April 1990
Volume / Issue
- 40 / 4
Start / End Page
- 671 - 676
International Standard Serial Number (ISSN)
Digital Object Identifier (DOI)
- United States