Article
Discordance of muscular dystrophy in monozygotic female twins: evidence supporting asymmetric splitting of the inner cell mass in a manifesting carrier of Duchenne dystrophy.
American journal of medical genetics - 1 Sept 1991
Lupski J R, Garcia C A, Zoghbi H Y, Hoffman E P, Fenwick R G
Abstract excerpt
In 1990, Richards et al. reported dramatically skewed lyonization in a set of female monozygotic twins heterozygous for Duchenne muscular dystrophy (DMD). The skewed inactivation pattern was symmetrical in opposite directions, one twin being affected with DMD, the other one being normal. Here, we...
Topics
- Adult
- Blotting, Southern
- Child
- DNA
- Densitometry
- Diseases in Twins
- Dosage Compensation, Genetic
- Dystrophin
- Female
- Genetic Carrier Screening
- Humans
- Male
- Methylation
- Multigene Family
- Muscles
- Muscular Dystrophies
- Mutation
- Pedigree