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tubular aggregate myopathy 2
Summary
- Definition
- A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24.
- Super Class
- autosomal dominant disease myopathy
External Links
- Disease Ontology
- DOID:0080686
- Mondo Disease Ontology
- OMIM
Related Genes
