Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are the most
frequent muscular dystrophies. Present study aimed to determine the frequency of …

Background Duchenne muscular dystrophy (DMD) is an X‐linked recessive neuromuscular
disorder characterised by progressive irreversible muscle weakness, primarily of the skeletal …

Duchenne/Becker 型肌营养不良(Duchenne/Becker muscular dystrophy, DMD/BMD) 是一种X-
连锁隐性遗传性肌病, 临床以进行性加重的对称性肌无力, 肌萎缩, 血清肌酸激酶水平增高 …

This master's thesis focuses on the work completed during my K01 award Genetic Variants
Associated with Tacrolimus (TAC) metabolism in Kidney Transplant Recipients. In Chapter …

The term dystrophinopathies includes a spectrum of muscle diseases caused by mutations
in the dystrophin (DMD) gene. The commonest mutations are intragenic deletions (65% of …

目的对81 例假肥大型肌营养不良症(Duchenne/Becker muscular dystrophy, DMD/BMD)
患者进行基因突变分析, 探讨中国河南人群DMD 基因突变的特点. 方法收集81 …

Molecular genetic testing has a unique range of indications, most of which are quite different
from the uses of traditional clinical laboratory testing and even molecular biologic testing in …

Variants in the dystrophin/DMD gene can result in Becker or Duchene muscular dystrophy
(BMD and DMD, respectively, also known as' dystrophinopathies') almost solely in male …

目的研究目标序列捕获结合高通量测序在常见遗传性疾病致病基因检测中的应用价值.
方法对217 例经气相色谱-质谱联用分析技术(GC-MS) 首次确诊为遗传性耳聋, 甲基丙二酸血症 …

The dystrophinopathies, which include Duchenne (DMD) and Becker muscular dystrophy
(BMD), are X-linked recessive muscular dystrophies. The most severe form, DMD, due to …