Term Name: | myofibrillar myopathy 11 |
---|---|
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. |
Ontology: | Human Disease [DOID:0081338] ( DOID:0081338 ) |