has material basis in germline mutation in ACTA1 congenital myopathy 2a, typical, autosomal dominant https://github.com/monarch-initiative/mondo/issues/4069 https://github.com/monarch-initiative/mondo/issues/6036 https://github.com/monarch-initiative/mondo/issues/7588 https://www.malacards.org/card/actin_accumulation_myopathy https://www.malacards.org/card/congenital_myopathy_2a_typical_autosomal_dominant actin myopathy congenital myopathy with excess of thin filaments UMLS:C3711389 MESH:C579880 SCTID:702349003 OMIM:161800 nemaline myopathy type 3 CMYO2A DOID:0110927 actin accumulation myopathy NCIT:C129870 NEM3 MESH:C580202 Orphanet:98904 actin accumulation myopathy (disorder) MEDGEN:777997 congenital myopathy 2a, typical, autosomal dominant GARD:0010111 ACTA1 nemaline myopathy nemaline myopathy 3 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. MONDO:0008070 nemaline myopathy caused by mutation in ACTA1 severe congenital nemaline myopathy intermediate nemaline myopathy typical nemaline myopathy childhood-onset nemaline myopathy nemaline myopathy alpha-actinopathy