Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:affects |
peripheral nerves
|
| gptkbp:alternativeName |
gptkb:autosomal_recessive_demyelinating_Charcot-Marie-Tooth_disease
|
| gptkbp:associatedWith |
gptkb:PRX
gptkb:LMNA gptkb:FIG4 gptkb:MTMR13 gptkb:MTMR2 gptkb:NDRG1 gptkb:SBF1 gptkb:SBF2 gptkb:SH3TC2 gptkb:EGR2 gptkb:GDAP1 |
| gptkbp:hasElectrophysiology |
demyelinating neuropathy
|
| https://www.w3.org/2000/01/rdf-schema#label |
CMT4
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
601596
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
rare
|
| gptkbp:subspecies |
gptkb:Charcot-Marie-Tooth_disease
gptkb:hereditary_spastic_paraplegia |
| gptkbp:symptom |
muscle atrophy
muscle weakness sensory loss foot deformities |
| gptkbp:treatment |
orthopedic surgery
supportive care physical therapy |
| gptkbp:bfsParent |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:bfsLayer |
6
|