Article
Unstable DNA sequence in myotonic dystrophy.
Lancet (London, England) - 9 May 1992
Harley H G, Rundle S A, Reardon W, Myring J, Crow S, Brook J D, Harper P S, Shaw D J
Abstract excerpt
A variable DNA sequence has been detected in patients with myotonic dystrophy. We set out to determine whether identification of this specific molecular defect would improve clinical management of patients and families with myotonic dystrophy. 127 affected patients who were studied had an expanded DNA fragment not seen in 73 normal controls. The increase in length of the fragment correlated broadly with disease...
Topics
- Adolescent
- Adult
- Aged
- Blotting, Southern
- Chromosome Aberrations
- Chromosome Banding
- Chromosome Disorders
- Chromosomes, Human, Pair 19
- DNA
- Diagnosis, Differential
- Female