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

doi:10.1212/wnl.40.4.671

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Article

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

Neurology - 1 Apr 1990

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

Abstract excerpt

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....

Topics

Adult
Alleles
Apolipoprotein C-II
Apolipoproteins C
Carrier State
Creatine Kinase
Diseases in Twins
Female
Genetic Linkage
Genetic Markers
Humans
Isoenzymes
Male
Myotonic Dystrophy
Pedigree
Polymorphism, Genetic
Pregnancy
Prenatal Diagnosis

Source

Open in PubMed

Identifiers

PMID: 2320244
DOI: 10.1212/wnl.40.4.671

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2320244-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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