Article
The DM mutation; diagnostic applications in the Finnish population.
Clinical genetics - 1 Apr 1993
Nokelainen P, Shelbourne P, Shaw D, Brook J D, Harley H G, Johnson K, Somer H, Savontaus M L, Peltonen L
Abstract excerpt
A pair of marker loci, D19S63 and D19S51, which are tightly linked to the myotonic dystrophy (DM) locus, were used to evaluate diagnostic applicability in the Finnish population. Results were then compared to direct detection of the mutation. The D19S63 locus revealed a linkage disequilibrium, si...
Topics
- Alleles
- Blotting, Southern
- DNA
- Electromyography
- Female
- Finland
- Gene Frequency
- Genetic Carrier Screening
- Genetic Linkage
- Genetic Markers
- Haplotypes
- Humans
- Lod Score
- Male
- Muscles
- Mutation
- Myotonic Dystrophy
- Pedigree
