导致抗肌营养不良蛋白基因未成熟的终止密码子的突变也导致了骨骼肌抗肌营养不良蛋白的全部缺失, 结果出现严重的杜兴肌营养不良性肌营养失调症。这里,首次报道了在肌浆膜中由无义突变引起的一个C- 末端截断的抗肌营养不良蛋白的定位。由于血清肌氨酸激酶活性增强,1例无症状的8岁男孩接受了骨骼肌抗肌营养不良蛋白的检查。值得注意的是,在Mab抗C- Mutations in the stop codon leading to immature immature dystrophin genes also led to the complete absence of skeletal muscle dystrophin, resulting in severe Duchenne muscular dystrophy. Here, for the first time, the localization of a C-terminal truncated anti-dystrophin protein caused by a nonsense mutation in the sarcoplasmic membrane was reported. One asymptomatic, 8-year-old boy underwent screening for skeletal muscle anti-dystrophin due to increased serum creatine kinase activity. It is worth noting that at Mab against C-