Article
Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation.
Human molecular genetics - 1 Apr 1995
Wang J, Pegoraro E, Menegazzo E, Gennarelli M, Hoop R C, Angelini C, Hoffman E P
Abstract excerpt
The trinucleotide expansion mutation causing myotonic dystrophy is in the 3' untranslated region of a protein kinase gene. The molecular mechanisms by which the expanded repeat causes the clinically variable and multisystemic disease, myotonic dystrophy, are not understood. It has been particularly difficult to rationalize the dominant inheritance with the fact that the expansion mutation lies outside of the...
Topics
- Adolescent
- Adult
- Aged
- Alleles
- Base Sequence
- DNA Primers
- Female
- Genes, Dominant
- Humans
- Male
- Molecular Sequence Data
- Muscles