mitochondrial disorder

GPTKB entity

Statements (27)
Predicate Object
gptkbp:instanceOf gptkb:disease
gptkbp:affects energy production
mitochondria
gptkbp:cause muscle weakness
organ dysfunction
neurological problems
gptkbp:causedBy genetic disorder
gptkbp:diagnosedBy genetic testing
muscle biopsy
gptkbp:firstDescribed 1960s
https://www.w3.org/2000/01/rdf-schema#label mitochondrial disorder
gptkbp:inheritance maternal inheritance
autosomal inheritance
gptkbp:prevalence rare
gptkbp:subspecies gptkb:Leigh_syndrome
gptkb:MELAS_syndrome
Kearns-Sayre syndrome
MERRF syndrome
gptkbp:symptom fatigue
vision problems
hearing loss
seizures
developmental delay
gptkbp:treatment supportive care
vitamin supplements
gptkbp:bfsParent gptkb:MELAS_syndrome
gptkbp:bfsLayer 7