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congenital myopathy 2B
Summary
- Definition
- A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42.
- Super Class
- autosomal recessive disease congenital myopathy
External Links
- Disease Ontology
- DOID:0081339
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P68133 | Actin, alpha skeletal muscle |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0100297 | Increased endomysial connective tissue |
| HP:0003324 | Generalized muscle weakness |
| HP:0003798 | Nemaline bodies |
| HP:0001290 | Generalized hypotonia |
| HP:0008180 | Mildly elevated creatine kinase |
| HP:0002093 | Respiratory insufficiency |
| HP:0003819 | Death in childhood |
| HP:0003811 | Neonatal death |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002421 | Poor head control |
