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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
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
