hereditary inclusion body myopathy
GPTKB entity
Statements (26)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
muscular dystrophy |
| gptkbp:affects |
gptkb:skeletal_muscle
facial muscles heart muscle |
| gptkbp:firstDescribed |
1981
|
| gptkbp:hasOrphanetID |
ORPHA:172
|
| https://www.w3.org/2000/01/rdf-schema#label |
hereditary inclusion body myopathy
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:VCP_gene
GNE gene MYH2 gene |
| gptkbp:OMIM |
600737
|
| gptkbp:onset |
adulthood
|
| gptkbp:pathology |
inclusion bodies in muscle fibers
rimmed vacuoles in muscle fibers |
| gptkbp:symptom |
muscle weakness
progressive muscle wasting |
| gptkbp:synonym |
GNE myopathy
Nonaka myopathy distal myopathy with rimmed vacuoles |
| gptkbp:treatment |
supportive care
physical therapy |
| gptkbp:bfsParent |
gptkb:inclusion_body_myopathy
|
| gptkbp:bfsLayer |
7
|