Actin-Accumulation Myopathy

Actin-Accumulation Myopathy, also known as congenital myopathy with excess of thin filaments, is related to congenital myopathy 2a, typical, autosomal dominant and myopathy, and has symptoms including waddling gait, facial paresis and generalized muscle weakness. An important gene associated with Actin-Accumulation Myopathy is ACTA1 (Actin Alpha 1, Skeletal Muscle). Affiliated tissues include skeletal muscle.