Article
Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: implications for genetic counselling and genetic anticipation.
American journal of medical genetics - 1 Feb 1993
Hunter A G, Jacob P, O'Hoy K, MacDonald I, Mettler G, Tsilfidis C, Korneluk R G
Abstract excerpt
Recently an unstable trinucleotide CTG repeat, located within the 3' untranslated region of a gene on 19q13.3 was discovered in kindreds with myotonic dystrophy (DM). The age-of-onset/severity of DM shows a good correlation with CTG repeat size, and pedigrees and data reported to date have shown...
Topics
- Adolescent
- Adult
- Base Sequence
- Chromosomes, Human, Pair 19
- DNA
- Female
- Genetic Counseling
- Humans
- Male
- Middle Aged
- Myotonic Dystrophy
- Pedigree
- Phenotype
- Repetitive Sequences, Nucleic Acid