Article
Congenital myopathies: diseases of the actin cytoskeleton.
The Journal of pathology - 1 Nov 2004
Clarkson Emilie, Costa Celine F, Machesky Laura M
Abstract excerpt
Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness ranging in severity. Three major forms have been identified: actin myopathy, intranuclear rod myopathy, and nemaline myopathy. Nemaline myopathy is the most common of these myopathies and is further subdivided into seven groups according to severity, progressiveness, and age of onset. At present, five...
Topics
- Actins
- Cytoskeleton
- Humans
- Muscle Proteins
- Muscle, Skeletal
- Muscular Diseases
- Mutation
- Phenotype
- Tropomyosin