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Autosomal dominant mitochondrial myopathy with exercise intolerance

ORPHA:457050 · Disease · Disorder

HPO 表現型（共 13 項）

Frequent (79-30%)(12)

  • Distal lower limb muscle weaknessHP:0009053
  • Exercise intoleranceHP:0003546
  • Increased circulating lactate concentrationHP:0002151
  • Increased intramyocellular lipid dropletsHP:0012240
  • Increased mitochondrial numberHP:0040014
  • Mildly elevated creatine kinaseHP:0008180
  • Neck flexor weaknessHP:0003722
  • Proximal lower limb muscle weaknessHP:0008994
  • Ragged-red muscle fibersHP:0003200
  • Restrictive ventilatory defectHP:0002091
  • Short statureHP:0004322
  • Weakness of facial musculatureHP:0030319

Occasional (29-5%)(1)

  • Proximal upper limb muscle weaknessHP:0008997