Article
A molecular protocol for diagnosing myotonic dystrophy.
Clinical chemistry - 1 Jan 1995
Guida M, Marger R S, Papp A C, Snyder P J, Sedra M S, Kissel J T, Mendell J R, Prior T W
Abstract excerpt
Myotonic dystrophy (DM) is an autosomal dominant genetic disease caused by an unstable CTG repeat sequence in the 3' untranslated region of the myotonin protein kinase gene. The CTG repeat is present 5-30 times in the normal population, whereas DM patients have CTG expansions of 50 to several thousand repeats. The age of onset of the disorder and the severity of the phenotype is roughly correlated with the size...
Topics
- Adult
- Aged
- Alleles
- Base Sequence
- Blotting, Southern
- DNA Probes
- Female
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Myotonic Dystrophy