Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies

M. C. Speer, M. A. Pericak-Vance, L. Yamaoka, W. Y. Hung, A. Ashley, J. M. Stajich, A. D. Roses

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)671-676
Number of pages6
JournalNeurology
Volume40
Issue number4
DOIs
StatePublished - Apr 1990
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology

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    Speer, M. C., Pericak-Vance, M. A., Yamaoka, L., Hung, W. Y., Ashley, A., Stajich, J. M., & Roses, A. D. (1990). Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies. Neurology, 40(4), 671-676. https://doi.org/10.1212/wnl.40.4.671