Article
Etiology and pathogenesis of the muscular dystrophies.
Acta neurologica Belgica - 1 Jan 1995
Van den Bergh P Y, Tomé F M, Fardeau M
Abstract excerpt
Despite intensive research efforts, the cause of the muscular dystrophies has remained elusive for many decades. In the late 1980s, major advances in molecular genetics have led to the discovery of the dystrophin gene and its protein product, dystrophin. Mutations in the dystrophin gene result in...
Topics
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 13
- Cytoskeletal Proteins
- Dystrophin
- Genotype
- Heterozygote
- Humans
- Membrane Proteins
- Muscular Dystrophies
- Myotonic Dystrophy
- Phenotype
- Point Mutation
- Utrophin