| Metadata | |
|---|---|
| ID | DOID:0081340 |
| Name | congenital myopathy 2C |
| 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). https://pubmed.ncbi.nlm.nih.gov/34561123/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a congenital myopathy |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |