Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
muscle disorder |
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:causedBy |
mutation in MYH2 gene
mutation in MYH7 gene |
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:firstDescribed |
1971
|
| gptkbp:hasOrphanetID |
ORPHA:98853
|
| https://www.w3.org/2000/01/rdf-schema#label |
myosin storage myopathy
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:OMIM |
255160
|
| gptkbp:pathology |
subsarcolemmal accumulation of myosin
|
| gptkbp:symptom |
muscle weakness
proximal muscle weakness respiratory muscle involvement |
| gptkbp:treatment |
supportive care
physical therapy |
| gptkbp:bfsParent |
gptkb:MYH7_(human)
|
| gptkbp:bfsLayer |
7
|