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Metadata
ID DOID:0080089
Name tubular aggregate myopathy 1
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.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/
Xrefs

GARD:3884

OMIM:160565

Subsets

DO_rare_slim

Parent Relationships

is_a myopathy

is_a autosomal dominant disease

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