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tubular aggregate myopathy 1
Summary
- Definition
- A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15.
- Super Class
- autosomal dominant disease myopathy
External Links
- Disease Ontology
- DOID:0080089
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13586 | Stromal interaction molecule 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P70302 | Stromal interaction molecule 1 |
