Article
Myotonic dystrophy: absence of CTG enlarged transcript in congenital forms, and low expression of the normal allele.
Human molecular genetics - 1 Aug 1993
Hofmann-Radvanyi H, Lavedan C, Rabès J P, Savoy D, Duros C, Johnson K, Junien C
Abstract excerpt
Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease. The mutation has been identified as an unstable trinucleotide CTG repeat in a sequence encoding a putative cAMP-dependent protein kinase. The CTG repeat varies in length between affected siblings, and generally increases thro...
Topics
- Alleles
- Base Sequence
- Blotting, Northern
- Blotting, Southern
- Cyclic AMP-Dependent Protein Kinases
- DNA
- DNA Primers
- Gene Expression
- Genes, Dominant
- Humans
- Infant, Newborn
- Molecular Sequence Data