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Human Disease

hyaline body myopathy

Term ID
DOID:0111267
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. https://www.ncbi.nlm.nih.gov/pubmed/22918376
References
  • GARD:7148
  • ORDO:53698
Ontology
Human Disease   ( DOID:0111267 )
Relationships
is a type of
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Genes Involved
Zebrafish Models