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  • Molecular assay reagents intended to identify mutations in the actin, alpha 1, skeletal muscle (ACTA1) gene, located at chromosome 1q42.13-q42.2, which encodes for skeletal muscle actin, a component of muscle tissue and a major constituent of the contractile apparatus. Mutations at this locus have been identified in patients with nemaline myopathy (NEM), congenital myopathy, and various cardiomyopathies; a genetic interaction between ACTA1 mutations and nonmuscle myosin mutations is also associated with deafness.
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