Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
muscular dystrophy |
| gptkbp:affects |
gptkb:skeletal_muscle
cardiac muscle |
| gptkbp:alsoKnownAs |
desmin myopathy
desminopathy |
| gptkbp:category |
muscular dystrophy
|
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:firstDescribed |
1998
|
| gptkbp:hasOrphanetID |
ORPHA:98849
|
| https://www.w3.org/2000/01/rdf-schema#label |
desmin-related myopathy
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:DES_gene
gptkb:FLNC_gene BAG3 gene CRYAB gene MYOT gene |
| gptkbp:OMIM |
601419
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
muscle atrophy
muscle weakness cardiomyopathy respiratory insufficiency |
| gptkbp:treatment |
supportive care
physical therapy respiratory support cardiac management |
| gptkbp:bfsParent |
gptkb:desmin
|
| gptkbp:bfsLayer |
6
|