inclusion body myopathy and brain white matter abnormalities

Term ID

DOID:0081121

Synonyms

• multisystem proteinopathy 6

Definition

An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. https://pubmed.ncbi.nlm.nih.gov/34048612/

References

• OMIM:619733

Ontology

Human Disease   ( DOID:0081121 )