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Multiminicore myopathy

ORPHA:598 · Disease · Disorder

HPO 表現型（共 21 項）

Very frequent (99-80%)(3)

  • Minicore myopathyHP:0003789
  • Muscular dystrophyHP:0003560
  • MyopathyHP:0003198

Frequent (79-30%)(14)

  • Abnormal muscle fiber morphologyHP:0004303
  • EMG abnormalityHP:0003457
  • Failure to thriveHP:0001508
  • Generalized hypotoniaHP:0001290
  • Joint hypermobilityHP:0001382
  • Joint stiffnessHP:0001387
  • Proximal lower limb muscle weaknessHP:0008994
  • Proximal upper limb muscle weaknessHP:0008997
  • Respiratory insufficiencyHP:0002093
  • Respiratory insufficiency due to muscle weaknessHP:0002747
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Spinal rigidityHP:0003306
  • StrabismusHP:0000486

Occasional (29-5%)(4)

  • Arthrogryposis multiplex congenitaHP:0002804
  • Distal muscle weaknessHP:0002460
  • External ophthalmoplegiaHP:0000544
  • Malignant hyperthermiaHP:0002047