Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
muscular dystrophy |
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:associatedWith |
gptkb:RYR1_gene
SEPN1 gene |
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:hasDiagnosticMethod |
genetic testing
muscle biopsy |
| gptkbp:hasMicroscopicFeature |
multiple cores in muscle fibers
|
| https://www.w3.org/2000/01/rdf-schema#label |
multicore myopathy
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:OMIM |
255320
|
| gptkbp:onset |
childhood
congenital |
| gptkbp:symptom |
hypotonia
muscle weakness delayed motor development respiratory difficulties |
| gptkbp:synonym |
gptkb:multiminicore_disease
|
| gptkbp:treatment |
supportive care
physical therapy respiratory support |
| gptkbp:bfsParent |
gptkb:multiminicore_disease
|
| gptkbp:bfsLayer |
7
|