Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
muscular dystrophy
muscle disease |
| gptkbp:affects |
gptkb:skeletal_muscle
|
| gptkbp:associatedWith |
gptkb:RYR1
|
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:firstDescribed |
1956
|
| https://www.w3.org/2000/01/rdf-schema#label |
central core disease
|
| gptkbp:ICD-10_code |
G71.2
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:namedAfter |
central cores in muscle fibers
|
| gptkbp:OMIM |
117000
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
malignant hyperthermia
|
| gptkbp:symptom |
hypotonia
muscle weakness delayed motor milestones muscle hypotrophy |
| gptkbp:treatment |
supportive care
physical therapy |
| gptkbp:bfsParent |
gptkb:RYR1
gptkb:RYR |
| gptkbp:bfsLayer |
6
|