Article
Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk.
American journal of human genetics - 1 Nov 1992
Passos-Bueno M R, Bakker E, Kneppers A L, Takata R I, Rapaport D, den Dunnen J T, Zatz M, van Ommen G J
Abstract excerpt
In about 65% of the cases of Duchenne muscular dystrophy (DMD) a partial gene deletion or duplication in the dystrophin gene can be detected. These mutations are clustered at two hot spots: 30% at the hot spot in the proximal part of the gene and about 70% at a more distal hot spot. Unexpectedly...
Topics
- Blotting, Southern
- Dystrophin
- Humans
- Mosaicism
- Muscular Dystrophies
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Risk