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MIRAGE
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:0001276 | Hypertonia |
| HP:0001283 | Bulbar palsy |
| HP:0001347 | Hyperreflexia |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0002063 | Rigidity |
| HP:0002359 | Frequent falls |
| HP:0003445 | EMG: neuropathic changes |
| HP:0003701 | Proximal muscle weakness |
| HP:0003810 | Late-onset distal muscle weakness |
| HP:0008872 | Feeding difficulties in infancy |
