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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:0001761 | Pes cavus |
| HP:0001989 | Fetal akinesia sequence |
| HP:0002067 | Bradykinesia |
| HP:0002068 | Neuromuscular dysphagia |
| HP:0002312 | Clumsiness |
| HP:0002483 | Bulbar signs |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0002792 | Reduced vital capacity |
| HP:0003546 | Exercise intolerance |
| HP:0003552 | Muscle stiffness |
