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nemaline myopathy 3
Summary
- Synonym
-
- NEM3
- congenital myopathy 2A
- nemaline myopathy 3, autosomal dominant or recessive
- Definition
- A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.
- Super Class
- autosomal recessive disease nemaline myopathy
External Links
- Disease Ontology
- DOID:0110927
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P68133 | Actin, alpha skeletal muscle |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P68134 | Actin, alpha skeletal muscle |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000218 | High palate |
| HP:0000275 | Narrow face |
| HP:0000347 | Micrognathia |
| HP:0000470 | Short neck |
| HP:0000508 | Ptosis |
| HP:0000767 | Pectus excavatum |
| HP:0000774 | Narrow chest |
| HP:0001288 | Gait disturbance |
| HP:0001319 | Neonatal hypotonia |
| HP:0002093 | Respiratory insufficiency |
