Human genes for tubular aggregate myopathy 1
Tubular aggregate myopathy 1 [DOID:0080089]
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.
Synonyms: tubular aggregate myopathy 1, DOID:0080089