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 )

Relationships
is a type of: autosomal dominant disease myopathy