Skeletal muscle alpha-actin diseases

Abstract

Skeletal muscle α-actin is the principal protein component of the adult skeletal muscle thin filament. The interaction between skeletal, muscle α-actin and the various myosin heavy chain proteins in the different muscle fibre types generates the force of muscle contraction. Skeletal muscle α-alpha actin is thus of fundamental importance to normal muscle contraction. To date over 140 different disease-causing mutations have been identified in the skeletal muscle α-actin gene ACTA1. These mutations are associated with histologically distinct congenital fibre type including nemaline myopathy, actin myopathy, intranuclear rod myopathy, congenital fibre type disproportion and myopathy with cores...