progressive external ophthalmoplegia
GPTKB entity
Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:mitochondrial_disorder |
| gptkbp:affects |
extraocular muscles
|
| gptkbp:alsoKnownAs |
gptkb:PEO
chronic progressive external ophthalmoplegia |
| gptkbp:complication |
exercise intolerance
dysphagia cardiac conduction defects |
| gptkbp:diagnosedBy |
genetic testing
muscle biopsy |
| gptkbp:firstDescribed |
1950s
|
| https://www.w3.org/2000/01/rdf-schema#label |
progressive external ophthalmoplegia
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive mitochondrial |
| gptkbp:MeSH_ID |
D010031
|
| gptkbp:mutationAssociatedWith |
gptkb:mtDNA
POLG gene SLC25A4 gene TWNK gene |
| gptkbp:OMIM |
157640
|
| gptkbp:onset |
childhood
adulthood |
| gptkbp:symptom |
muscle weakness
ptosis ophthalmoplegia |
| gptkbp:treatment |
supportive care
cardiac monitoring ptosis surgery |
| gptkbp:bfsParent |
gptkb:RRM2B
gptkb:C10orf2 gptkb:Kearns–Sayre_syndrome gptkb:SLC25A4 |
| gptkbp:bfsLayer |
7
|