Article
Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients.
Journal of tropical pediatrics - 1 Apr 2014
Uwineza Annette, Hitayezu Janvier, Murorunkwere Seraphine, Ndinkabandi Janvier, Kalala Malu Celestin Kaputu, Caberg Jean Hubert, Dideberg Vinciane, Bours Vincent, Mutesa Leon
Abstract excerpt
Duchenne and Becker muscular dystrophies are the most common clinical forms of muscular dystrophies. They are genetically X-linked diseases caused by a mutation in the dystrophin (DMD) gene. A genetic diagnosis was carried out in six Rwandan patients presenting a phenotype of Duchenne and Becker muscular dystrophies and six asymptomatic female carrier relatives using multiplex ligation-dependent probe...
Topics
- Adolescent
- Child
- Child, Preschool
- DNA Copy Number Variations
- DNA Mutational Analysis
- Dystrophin
- Exons
- Female
- Gene Deletion
- Genetic Testing
- Humans
- Male
- Multiplex Polymerase Chain Reaction