Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
ORPHA:254864DiseaseMitochondrial inheritanceInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)24
Очень частый (80–99%)7
HP:0001290Generalized hypotonia
HP:0001324Muscle weakness
HP:0003198Myopathy
HP:0003200Ragged-red muscle fibers
HP:0003688Cytochrome C oxidase-negative muscle fibers
HP:0009051Increased muscle glycogen content
HP:0009058Increased muscle lipid content
Частый (30–79%)5
HP:0001265Hyporeflexia
HP:0002098Respiratory distress
HP:0004900Severe lactic acidosis
HP:0008180Mildly elevated creatine kinase
HP:0011923Decreased activity of mitochondrial complex I
Периодический (5–29%)11
HP:0000158Macroglossia
HP:0000218High palate
HP:0000707Abnormality of the nervous system
HP:0001392Abnormality of the liver
HP:0001626Abnormality of the cardiovascular system
HP:0002033Poor suck
HP:0002240Hepatomegaly
HP:0003234Decreased circulating carnitine concentration
HP:0004887Respiratory failure requiring assisted ventilation
HP:0005946Ventilator dependence with inability to wean
HP:0011470Nasogastric tube feeding in infancy
Очень редкий (1–4%)1
HP:0002194Delayed gross motor development
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)