Article
Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases.
American journal of medical genetics - 24 Jul 1998
Zatz M, Sumita D, Campiotto S, Canovas M, Cerqueira A, Vainzof M, Passos-Bueno M R
Abstract excerpt
Duchenne dystrophy (DMD) is an X-linked lethal condition which affects 1 in 3,500 boys. The DMD gene is deleted in about 60-65% of patients while in the remaining 35-40% the condition is caused by point mutations, small insertions, or duplications. We have ascertained 967 DMD families (680 isolat...
Topics
- Child
- Child, Preschool
- Creatine Kinase
- DNA Transposable Elements
- Dystrophin
- Fathers
- Genetic Linkage
- Genetic Testing
- Genotype
- Humans
- Male
- Mothers
- Muscular Dystrophies
- Mutation
- Nuclear Family
- Pedigree
- Sequence Deletion
- X Chromosome