Article
Germline mosaicism and Duchenne muscular dystrophy mutations.
Nature - 1 Jan 2000
Bakker E, Van Broeckhoven C, Bonten E J, van de Vooren M J, Veenema H, Van Hul W, Van Ommen G J, Vandenberghe A, Pearson P L
Abstract excerpt
Duchenne muscular dystrophy (DMD) is a severe X-linked neuromuscular disease with an incidence of approximately 1 in 3,500 newborn boys. The DMD locus has a high mutation frequency: one third of the cases is thought to result from a new mutation. Linkage studies using probes to detect restriction fragment length polymorphisms and DNA deletion studies have greatly improved DMD carrier detection and prenatal...
Topics
- Chromosome Deletion
- Germ Cells
- Heterozygote
- Humans
- Mosaicism
- Muscular Dystrophies
- Mutation
- Pedigree
- Polymorphism, Restriction Fragment Length
- X Chromosome