Presymptomatic diagnosis of myotonic dystrophy.

doi:10.1136/jmg.29.11.780

Back to search

Article

Presymptomatic diagnosis of myotonic dystrophy.

Journal of medical genetics - 1 Nov 1992

Brunner H G, Nillesen W, van Oost B A, Jansen G, Wieringa B, Ropers H H, Smeets H J

Abstract excerpt

The discovery of an expanded (CTG)n repeat sequence in myotonic dystrophy (DM) has greatly improved our ability to detect DM gene carriers who have few or none of the classical signs of this disorder. We report here our experience with two such groups of gene carriers. We used a PCR based protoco...

Topics

Adult
Aged
Aged, 80 and over
Alleles
Base Sequence
DNA
DNA Mutational Analysis
Female
Gene Amplification
Genetic Carrier Screening
Genetic Linkage
Humans
Male
Middle Aged
Molecular Sequence Data
Myotonic Dystrophy
Pedigree
Polymerase Chain Reaction

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.