Term Name: tubular aggregate myopathy 2
Synonyms:
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.
Ontology: Human Disease [DOID:0080686]   ( DOID:0080686 )

Relationships
is a type of: autosomal dominant disease myopathy