Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:Charcot-Marie-Tooth_disease
hereditary neuropathy |
| gptkbp:affects |
peripheral nerves
|
| gptkbp:alsoKnownAs |
Charcot-Marie-Tooth disease type 1X
|
| gptkbp:diagnosedBy |
genetic testing
|
| https://www.w3.org/2000/01/rdf-schema#label |
CMT1X
|
| gptkbp:inheritance |
X-linked dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:GJB1_gene
|
| gptkbp:OMIM |
302800
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
muscle atrophy
muscle weakness sensory loss foot deformities |
| gptkbp:treatment |
supportive care
physical therapy orthopedic devices |
| gptkbp:bfsParent |
gptkb:CMTX
|
| gptkbp:bfsLayer |
7
|