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- Objective To establish a normative procedure for clinical prenatal gene diagnosis of Duchenne and Becker muscular dystrophy(DMD/BMD). 目的 建立规范的假肥大型肌营养不良症 (DMD/BMD)产前基因诊断程序。
- Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while thosewith Becker muscular dystrophy have dystrophinof an altered size. 是最常见的一类进行性肌营养不良症。
- Objective To explore the value of immunofluorescent technique for clinical diagnosing Duchenne muscular dystrophy(DMD),Becker muscular dystrophy(BMD) and Limb-girdle muscular dystrophy(LGMD). 目的探讨免疫荧光检测对Duchenne型、Becker型和肢带型肌营养不良症(DMD、BMD和LG-MD)临床诊断的价值。
- Methods Dystrophin in the muscle tissue of 12 patients with Duchenne muscular dystrophy (DMD), 5 patients with Becker muscular dystrophy (BMD) was analysed by immunohistochemistry,and compared with muscle tissue of 6 patients without neuromuscle disease. 方法 运用免疫组化法对 12例 Duchenne型肌营养不良症 (DMD)患者及 5例 Becker型肌营养不良症 (BMD)患者的肌组织中肌营养不良蛋白的表达进行分析 ,并用 6例非神经肌肉疾病患者的肌组织作为对照。
- The method of STR sequence polymorphism analysis can determine haplotypes at normal status or at risk status, it would be used in prenatal diagnosis and carrier detection in the families of Duchenne and Becker muscular dystrophy. 短串联重复顺序多态性分析方法可以准确而迅速地区分正常及风险单体型,可用于Duchenne型或Becker型肌营养不良家系中检出携带者及产前诊断
- Methods: Fourteen boys with Duchenne or Becker muscular dystrophy, 6 to 11 years old, completed two treatment periods (albuterol and placebo), 12 weeks each, separated by a 12-week washout period. 基于沙丁胺醇缓释剂治疗肌营养不良症患儿的前期研究,作者进行了一项随机、双盲、安慰剂对照的交叉设计的研究。
- Duchenne and Becker muscular dystrophy 假肥大肌营养不良
- Duchenne and Becker muscular dystrophy (DMD/BMD) Duchenne型/Becker型肌营养不良
- Duchenne Becker muscular dystrophy BMD
- Duchenne Becker muscular dystrophy(BMD) 进行性肌营养不良
- Keywords Becker muscular dystrophy;hereditary disease; 贝克氏型肌营养不良症;遗传病;
- Keywords Duchenne and Becker muscular dystrophy;Dystrophin;Twins; 假肥大肌营养不良;肌营养不良蛋白;双生子;
- Prenatal molecular diagnosis of Duchenne and Becker muscular dystrophy 假肥大型肌营养不良症的产前基因诊断
- Detection of Duchenne and Becker muscular dystrophy patients by DNA microarray DNA微阵列技术检测Duchenne型/Becker型肌营养不良患者的临床应用研究
- Clinical application of prenatal gene diagnosis of Duchenne and Becker muscular dystrophy 假肥大型肌营养不良症产前基因诊断的临床应用
- Pulmonary Function Characteristics and Rehabilitation Strategy for Becker Muscular Dystrophy 良性假肥大型肌营养不良症患者肺功能的表现特点与康复对策
- EXPRESSION OF DYSTROPHIN IN MUSCLE TISSSUES OF DUCHENNE AND BECKER MUSCULAR DYSTROPHY TWINS 肌营养不良蛋白在假肥大肌营养不良双生子肌组织中的表达
- Carrier detection of Duchenne and Becker muscular dystrophy by quantitative multiplex PCR 定量PCR检测缺失型DMD/BMD携带者的研究
- LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype LGMD2I是Duchenne型或Becker型肌营养不良的特征性表型
- Gene diagnosis and pedigree analysis in families of Duchenne and Becker muscular dystrophy 进行性肌营养不良症基因诊断及家系分析