inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2

Term ID

DOID:0111384

Synonyms

• IBMPFD2
• MSP2
• multisystem proteinopathy 2

Definition

An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2. https://www.ncbi.nlm.nih.gov/pubmed/23455423

References

• OMIM:615422

Ontology

Human Disease   ( DOID:0111384 )