congenital myopathy 2a, typical, autosomal dominant
Findings
No curated finding names congenital myopathy 2a, typical, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008070), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ACTA1HGNC:129
- Definitive · Ambry Genetics · Semidominant · 2018
- Definitive · Illumina · Semidominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal recessive · 2015
Where it sits
Other names
8 names
Resolves to: congenital myopathy 2a, typical, autosomal dominant
- Also called
- ACTA1 nemaline myopathyactin accumulation myopathyactin accumulation myopathy (disorder)actin myopathyCMYO2Acongenital myopathy with excess of thin filamentsnemaline myopathy caused by mutation in ACTA1nemaline myopathy type 3