mitochondrial myopathy

GPTKB entity

Statements (33)
Predicate Object
gptkbp:instanceOf gptkb:disease
mitochondrial disease
gptkbp:affects gptkb:skeletal_muscle
gptkbp:causedBy mitochondrial DNA mutation
nuclear DNA mutation
gptkbp:complication gptkb:diabetes_mellitus
respiratory failure
cardiomyopathy
gptkbp:diagnosedBy genetic testing
muscle biopsy
blood lactate test
gptkbp:firstDescribed 1960s
https://www.w3.org/2000/01/rdf-schema#label mitochondrial myopathy
gptkbp:inheritance maternal inheritance
autosomal inheritance
gptkbp:studiedBy gptkb:neuroscientist
biologist
gptkbp:subspecies gptkb:MELAS_syndrome
Kearns-Sayre syndrome
MERRF syndrome
chronic progressive external ophthalmoplegia
gptkbp:symptom exercise intolerance
fatigue
muscle weakness
myalgia
ptosis
ophthalmoplegia
gptkbp:treatment gptkb:coenzyme_Q10
physical therapy
vitamin supplements
gptkbp:bfsParent gptkb:ND5
gptkb:SLC25A4
gptkbp:bfsLayer 7