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DNAJB6-related limb-girdle muscular dystrophy D1

ORPHA:34516 · Disease · Disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(1)

  • Generalized muscle weaknessHP:0003324

Frequent (79-30%)(4)

  • Difficulty climbing stairsHP:0003551
  • DysarthriaHP:0001260
  • DysphagiaHP:0002015
  • Increased variability in muscle fiber diameterHP:0003557

Occasional (29-5%)(5)

  • Fatty replacement of skeletal muscleHP:0012548
  • Loss of ambulationHP:0002505
  • Myofibrillar myopathyHP:0003715
  • Rimmed vacuolesHP:0003805
  • Skeletal muscle fibrosisHP:0030951

Very rare (<4-1%)(2)

  • Abnormal muscle fiber morphologyHP:0004303
  • Percussion myotoniaHP:0010548