OBO ID: DOID:0111267
Term Name: hyaline body myopathy Search Ontology:
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 )
OTHER hyaline body myopathy PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None