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-
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 ) .
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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 .