Article
Molecular analysis for the myotonic dystrophy mutation in neuromuscular disorders.
Neuromuscular disorders : NMD - 1 Jan 1992
MacMillan J C, Myring J, Harley H G, Reardon W, Harper P S, Shaw D J
Abstract excerpt
A variable expansion of an unstable CTG repeat has been identified as the causal mutation for myotonic dystrophy. Standard molecular genetic techniques can now supplement traditional assessment protocols in a variety of clinical neurological situations where diagnostic uncertainty prevailed. Southern analysis using DNA probes which identify the expanded sequence, supplemented by direct PCR analysis for repeat...
Topics
- Adult
- Aged
- DNA Mutational Analysis
- Female
- Humans
- Infant, Newborn
- Male
- Middle Aged
- Mutation
- Myotonic Dystrophy
- Neuromuscular Diseases
- Polymerase Chain Reaction