Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Speer, M. C.
Right arrow Articles by Roses, A. D.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Speer, M. C.
Right arrow Articles by Roses, A. D.
NEUROLOGY 1990;40:671
© 1990 American Academy of Neurology

Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies

M. C. Speer, MS, M. A. Pericak-Vance, PhD, L. Yamaoka, PhD, W.-Y. Hung, PhD, A. Ashley, J. M. Stajich, PA-C and A. D. Roses, MD

Department of Medicine, Division of Neurology (M.C. Speer, Drs. Pericak-Vance, Yamaoka, Hung, and Roses; and A. Ashley and J.M. Stajich), University Program in Genetics (M.C. Speer and Dr. Roses), and the Department of Zoology (M.C. Speer), Duke University, Durham, NC.

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.

Address correspondence and reprint requests to Dr. Allen D. Roses, Division of Neurology, Box 2900, Duke University Medical Center, Durham, NC 27710.

Funding for these researchers was provided by NINCDS Grant #NS19999 (A.D.R.), a Research Program Project #1 PO1-NS-26630 (M.A.P.-V.), the Muscular Dystrophy Association of America (A.D.R.), and the Denver Fund for Health and Medical Research of the Piton Foundation (A.D.R.).

Received July 24, 1989. Accepted for publication in final form September 14, 1989.






HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1990 by AAN Enterprises, Inc.