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Glycogen storage disease due to phosphoglycerate mutase deficiency

ORPHA:97234 · Disease · Disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(1)

  • Reduced muscle phosphoglycerate mutase activityHP:6000197

Frequent (79-30%)(6)

  • Elevated circulating creatine kinase activityHP:0003236
  • Exercise intoleranceHP:0003546
  • Exercise-induced muscle crampsHP:0003710
  • Muscle fiber tubular inclusionsHP:0100301
  • MyalgiaHP:0003326
  • MyoglobinuriaHP:0002913

Occasional (29-5%)(3)

  • Acute kidney injuryHP:0001919
  • Acute rhabdomyolysisHP:0008942
  • Muscle weaknessHP:0001324

Excluded (0%)(2)

  • Abnormal nerve conduction velocityHP:0040129
  • EMG abnormalityHP:0003457