Article
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.
Human molecular genetics - 15 Oct 2012
Ochala Julien, Gokhin David S, Pénisson-Besnier Isabelle, Quijano-Roy Susana, Monnier Nicole, Lunardi Joël, Romero Norma B, Fowler Velia M
Abstract excerpt
In humans, congenital myopathy-linked tropomyosin mutations lead to skeletal muscle dysfunction, but the cellular and molecular mechanisms underlying such dysfunction remain obscure. Recent studies have suggested a unifying mechanism by which tropomyosin mutations partially inhibit thin filament activation and prevent proper formation and cycling of myosin cross-bridges, inducing force deficits at the fiber and...
Topics
- Actin Cytoskeleton
- Adult
- Aged
- Child
- Female
- Humans
- Male
- Middle Aged
- Muscle, Skeletal
- Muscular Diseases
- Mutation