Article
[Molecular pathology of Duchenne and Becker muscular dystrophy].
Comptes rendus des seances de la Societe de biologie et de ses filiales - 1 Jan 1992
Gilgenkrantz H, Chelly J, Récan D, Chafey P, Kaplan J C
Abstract excerpt
Duchenne and Becker muscular dystrophies (DMD and BMD) are two allelic recessive X-linked disorders. Molecular deletions of various regions of the dystrophin gene are the main mutations detected in DMD and BMD patients. Molecular study of DMD and BMD DNA are instrumental to understand the pathological molecular mechanisms and the function of the protein. We describe here dystrophin and its interaction with a...
Topics
- Dystrophin
- Humans
- Muscular Dystrophies
- Mutation