| Term Name: | tubular aggregate myopathy 1 |
|---|---|
| Synonyms: | |
| 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. |
| Ontology: | Human Disease [DOID:0080089] ( DOID:0080089 ) |