| Metadata | |
|---|---|
| ID | DOID:0111267 |
| Name | hyaline body 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
myosin storage myopathy [EXACT] |
| Parent Relationships |
is_a congenital myopathy |