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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:0002878 | Respiratory failure |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0003327 | Axial muscle weakness |
| HP:0003798 | Nemaline bodies |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0005855 | Multiple prenatal fractures |
| HP:0006829 | Severe muscular hypotonia |
| HP:0007514 | Edema of the dorsum of hands |
| HP:0009025 | Increased connective tissue |
| HP:0010628 | Facial palsy |
