tubular aggregate myopathy 2

Term ID

DOID:0080686

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. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/

References

• OMIM:615883

Ontology

Human Disease   ( DOID:0080686 )