Term Name: hyaline body myopathy
Synonyms: myosin storage myopathy
Definition: A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2.
Ontology: Human Disease [DOID:0111267]   ( DOID:0111267 )

Relationships
is a type of: congenital myopathy
has subtype: autosomal dominant hyaline body myopathy autosomal recessive hyaline body myopathy