A new probe for the diagnosis of myotonic muscular dystrophy.

Published

Journal Article

Myotonic muscular dystrophy (DM) is the most common muscular dystrophy, affecting adults as well as children. It is inherited as an autosomal dominant trait and is characterized by variable expressivity and late age-of-onset. Linkage studies have established the locus on chromosome 19. In order to identify tightly linked probes for diagnosis as well as to define in detail the DM gene region, chromosome 19 libraries were constructed and screened for restriction fragment length polymorphisms tightly linked to DM. A genomic clone, LDR152 (D19S19), was isolated that is tightly linked to DM; recombination fraction = 0.0 (95% confidence limits 0.0-0.03); lod score, 15.4.

Full Text

Duke Authors

Cited Authors

  • Bartlett, RJ; Pericak-Vance, MA; Yamaoka, L; Gilbert, J; Herbstreith, M; Hung, WY; Lee, JE; Mohandas, T; Bruns, G; Laberge, C

Published Date

  • March 27, 1987

Published In

Volume / Issue

  • 235 / 4796

Start / End Page

  • 1648 - 1650

PubMed ID

  • 3029876

Pubmed Central ID

  • 3029876

International Standard Serial Number (ISSN)

  • 0036-8075

Digital Object Identifier (DOI)

  • 10.1126/science.3029876

Language

  • eng

Conference Location

  • United States