Congenital myopathy 2a, typical, autosomal dominant

Congenital myopathy 2a, typical, autosomal dominant

Definition

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, actin accumulation myopathy, actin accumulation myopathy (disorder), actin myopathy, CMYO2A, congenital myopathy 2a, typical, autosomal dominant, congenital myopathy with excess of thin filaments, nemaline myopathy caused by mutation in ACTA1, nemaline myopathy type 3 — per MONDO

Also identified as

Affected Organs

Organ Involvement Source
Musculature Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Musculature Disease Has Primary Anatomic Site NCIT · CC BY 4.0
Musculoskeletal system Disease Has Associated Anatomic Site NCIT · CC BY 4.0
Musculoskeletal system Disease Has Primary Anatomic Site NCIT · CC BY 4.0