Metadata | |
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ID | DOID:0080686 |
Name | tubular aggregate myopathy 2 |
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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/ |
Xrefs | |
Parent Relationships |
is_a myopathy |