mitochondrial DNA maintenance disorder
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
mitochondria
|
| gptkbp:can_be_caused_by_mutation_in |
POLG gene
TWNK gene RRM2B gene DGUOK gene MPV17 gene |
| gptkbp:cause |
gptkb:progressive_external_ophthalmoplegia
liver failure neurological symptoms muscular dystrophy mitochondrial dysfunction |
| https://www.w3.org/2000/01/rdf-schema#label |
mitochondrial DNA maintenance disorder
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:is_diagnosed_by |
genetic testing
muscle biopsy |
| gptkbp:is_treated_with |
supportive care
|
| gptkbp:relatedTo |
mitochondrial depletion syndrome
multiple mitochondrial DNA deletions |
| gptkbp:bfsParent |
gptkb:TOP3A
|
| gptkbp:bfsLayer |
7
|