Article
Three years' experience with neonatal screening for Duchenne/Becker muscular dystrophy: gene analysis, gene expression, and phenotype prediction.
American journal of medical genetics - 1 Apr 1991
Greenberg C R, Jacobs H K, Halliday W, Wrogemann K
Abstract excerpt
Neonatal screening for Duchenne/Becker Muscular dystrophy (DMD/BMD) was begun as a pilot program on January 1, 1986. The aim of this program was to reduce the incidence of this X-linked recessive degenerative neuromuscular disease. The neonatal detection of a boy with DMD allows early identification of carriers and genetic counselling. This may avert the birth of other affected males born prior to clinical...
Topics
- Cohort Studies
- Creatine Kinase
- Decision Making
- Dystrophin
- Female
- Follow-Up Studies
- Gene Expression
- Genetic Counseling
- Genetic Testing
- Humans
- Incidence