Article
Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism.
American journal of human genetics - 1 May 1993
Lavedan C, Hofmann-Radvanyi H, Shelbourne P, Rabes J P, Duros C, Savoy D, Dehaupas I, Luce S, Johnson K, Junien C
Abstract excerpt
Myotonic dystrophy (DM) is a progressive neuromuscular disorder which results from elongations of an unstable (CTG)n repeat, located in the 3' untranslated region of the DM gene. A correlation has been demonstrated between the increase in the repeat number of this sequence and the severity of the...
Topics
- Adult
- Child
- DNA Mutational Analysis
- Fathers
- Female
- Genetic Variation
- Humans
- Male
- Meiosis
- Mosaicism
- Mothers
- Myotonic Dystrophy
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Recombination, Genetic