Term Name: | hyaline body myopathy |
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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 ) |