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congenital myopathy 2C
Summary
- Definition
- A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B).
- Super Class
- autosomal dominant disease congenital myopathy
External Links
- Disease Ontology
- DOID:0081340
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P68133 | Actin, alpha skeletal muscle |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002878 | Respiratory failure |
| HP:0001270 | Motor delay |
| HP:0003819 | Death in childhood |
| HP:0000276 | Long face |
| HP:0003577 | Congenital onset |
| HP:0011968 | Feeding difficulties |
| HP:0001558 | Decreased fetal movement |
| HP:0000218 | High palate |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0010310 | Chylothorax |
