hyaline body myopathy
Information
- Disease name
- hyaline body myopathy
- Disease ID
- DOID:0111267
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22918376]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0081337
- Cross Reference ID (Disease Ontology)
- GARD:7148
- Cross Reference ID (Disease Ontology)
- ORDO:53698
- Exact Synonym (Disease Ontology)
- myosin storage myopathy