Article
Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies.
Bosnian journal of basic medical sciences - 20 Jul 2015
Le Rumeur Elisabeth
Abstract excerpt
Mutations of the dystrophin DMD gene, essentially deletions of one or several exons, are the cause of two devastating and to date incurable diseases, Duchenne (DMD) and Becker (BMD) muscular dystrophies. Depending upon the preservation or not of the reading frame, dystrophin is completely absent in DMD, or present in either a mutated or a truncated form in BMD. DMD is a severe disease which leads to a premature...
Topics
- Dystrophin
- Humans
- Muscular Dystrophy, Duchenne
- Mutation