Congenital myopathy 2a, typical, autosomal dominant

An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.

Also known as: ACTA1 nemaline myopathy, CMYO2A, actin accumulation myopathy, actin accumulation myopathy (disorder), actin myopathy, congenital myopathy 2a, typical, autosomal dominant, congenital myopathy with excess of thin filaments, nemaline myopathy caused by mutation in ACTA1

4 clinical trials for this condition and its sub-types, 0 tagged with Congenital myopathy 2a, typical, autosomal dominant itself.