Article
Tropomyosins in skeletal muscle diseases.
Advances in experimental medicine and biology - 1 Jan 2008
Kee Anthony J, Hardeman Edna C
Abstract excerpt
A number of congenital muscle diseases and disorders are caused by mutations in genes that encode the proteins present in or associated with the thin filaments of the muscle sarcomere. These genes include alpha-skeletal actin (ACTA1), beta-tropomyosin (TPM2), alpha-tropomyosin slow (TPM3), nebulin (NEB), troponin I fast (TNNI2), troponin T slow (TNNT1), troponin T fast (TNNT3) and cofilin (CFL2). Mutations in two...
Topics
- Actins
- Animals
- Cytoskeleton
- Genotype
- Humans
- Mice
- Models, Biological
- Models, Genetic
- Muscle, Skeletal
- Muscles
- Muscular Diseases
- Mutation
- Protein Isoforms
