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 )

Relationships
is a type of: myofibrillar myopathy