myofibrillar myopathy 11

Term ID

DOID:0081338

Synonyms

Definition

A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11. https://pubmed.ncbi.nlm.nih.gov/33217308/

References

• OMIM:619178

Ontology

Human Disease   ( DOID:0081338 )