假性肥大型肌营养不良

  • 网络pseudohypertrophic muscular dystrophy
假性肥大型肌营养不良假性肥大型肌营养不良
  1. 目的:应用荧光原位杂交(FISH)筛查技术检测假性肥大型肌营养不良症(DMD/BMD)缺失型携带者。

    Objective : To identify the deletions in Duchenne / Becker muscular dystrophy ( DMD / BMD ) by using fluorescence in situ hybridization ( FISH ) .

  2. 先证者母亲的临床特点类似良性假性肥大型肌营养不良(Beckermusculardystrophy,BMD),肌肉免疫荧光分析提示dystrophin蛋白染色阳性的纤维与阴性纤维并存。

    The 39-year-old mother of this proband was noted to have a clinical feature resembling that of Becker muscular dystrophy ( BMD ), and the immunofluorescence analysis revealed that dystrophin positive fibers and negative fibers co-existed in her muscle .