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

Publication ,  Journal Article
Speer, MC; Pericak-Vance, MA; Yamaoka, L; Hung, WY; Ashley, A; Stajich, JM; Roses, AD
Published in: Neurology
April 1990

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.

Duke Scholars

Published In

Neurology

DOI

ISSN

0028-3878

Publication Date

April 1990

Volume

40

Issue

4

Start / End Page

671 / 676

Location

United States

Related Subject Headings

  • Twins, Monozygotic
  • Prenatal Diagnosis
  • Pregnancy
  • Polymorphism, Genetic
  • Pedigree
  • Neurology & Neurosurgery
  • Myotonic Dystrophy
  • Male
  • Isoenzymes
  • Humans
 

Citation

APA
Chicago
ICMJE
MLA
NLM
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
Speer, M. C., M. A. Pericak-Vance, L. Yamaoka, W. Y. Hung, A. Ashley, J. M. Stajich, and A. D. Roses. “Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies.Neurology 40, no. 4 (April 1990): 671–76. https://doi.org/10.1212/wnl.40.4.671.
Speer MC, Pericak-Vance MA, Yamaoka L, Hung WY, Ashley A, Stajich JM, et al. Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies. Neurology. 1990 Apr;40(4):671–6.
Speer, M. C., et al. “Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies.Neurology, vol. 40, no. 4, Apr. 1990, pp. 671–76. Pubmed, doi:10.1212/wnl.40.4.671.
Speer MC, Pericak-Vance MA, Yamaoka L, Hung WY, Ashley A, Stajich JM, Roses AD. Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies. Neurology. 1990 Apr;40(4):671–676.

Published In

Neurology

DOI

ISSN

0028-3878

Publication Date

April 1990

Volume

40

Issue

4

Start / End Page

671 / 676

Location

United States

Related Subject Headings

  • Twins, Monozygotic
  • Prenatal Diagnosis
  • Pregnancy
  • Polymorphism, Genetic
  • Pedigree
  • Neurology & Neurosurgery
  • Myotonic Dystrophy
  • Male
  • Isoenzymes
  • Humans