Disease association ontology term - MONDO:0008070 - congenital myopathy 2a, typical, autosomal dominant
Term summary
- ID
- MONDO:0008070
- Name
- congenital myopathy 2a, typical, autosomal dominant
- Ontology or CV name
- Disease association
- 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.
