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Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

ORPHA:254864 · Disease · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(7)

  • Cytochrome C oxidase-negative muscle fibersHP:0003688
  • Generalized hypotoniaHP:0001290
  • Increased muscle glycogen contentHP:0009051
  • Increased muscle lipid contentHP:0009058
  • Muscle weaknessHP:0001324
  • MyopathyHP:0003198
  • Ragged-red muscle fibersHP:0003200

Frequent (79-30%)(5)

  • Decreased activity of mitochondrial complex IHP:0011923
  • HyporeflexiaHP:0001265
  • Mildly elevated creatine kinaseHP:0008180
  • Respiratory distressHP:0002098
  • Severe lactic acidosisHP:0004900

Occasional (29-5%)(11)

  • Abnormality of the cardiovascular systemHP:0001626
  • Abnormality of the liverHP:0001392
  • Abnormality of the nervous systemHP:0000707
  • Decreased circulating carnitine concentrationHP:0003234
  • HepatomegalyHP:0002240
  • High palateHP:0000218
  • MacroglossiaHP:0000158
  • Nasogastric tube feeding in infancyHP:0011470
  • Poor suckHP:0002033
  • Respiratory failure requiring assisted ventilationHP:0004887
  • Ventilator dependence with inability to weanHP:0005946

Very rare (<4-1%)(1)

  • Delayed gross motor developmentHP:0002194