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Reagents, Molecular Assay, Gene Anomaly, Mutation, ACTA1

Definition : 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.

Entry Terms : "Myopathy Gene Mutation Detection Reagents" , "Actin Myopathy Gene Mutation Detection Reagents" , "Nemaline Rod Myopathy Gene Mutation Detection Reagents" , "Amish Nemaline Myopathy Gene Mutation Detection Reagents" , "Nemaline Myopathy Gene Mutation Detection Reagents" , "ACTA1 Gene Mutation Detection Reagents"

UMDC code : 24280

   

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