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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:0001623 | Breech presentation |
| HP:0000298 | Mask-like facies |
| HP:0003623 | Neonatal onset |
| HP:0100309 | Subdural hemorrhage |
| HP:0002098 | Respiratory distress |
| HP:0001252 | Hypotonia |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0000275 | Narrow face |
| HP:0003324 | Generalized muscle weakness |
| HP:0011471 | Gastrostomy tube feeding in infancy |
