Skeletal muscle alpha-actin diseases

KN North, NG Laing

Published : 2008


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...

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