Duchenne muscular dystrophy (DMD) is a clinically common X-linked recessive myopathy,
which is caused by mutation of the gene encoding dystrophin on chromosome Xp21. The …

Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) are allelic
disorders with different clinical presentations and severity determined by mutations in the …

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder characterised by
the degeneration of motor neurons and progressive muscle weakness. It is caused by …

Dystrophinopathies are X-linked recessive muscle disorders caused by mutations in the
dystrophin (DMD) gene that include deletions, duplications, and point mutations. Correct …

Duchenne muscular dystrophy (DMD) is an X‐linked genetic disease, caused by the
absence of the dystrophin protein. Although many novel therapies are under development …

Inherited neuromuscular diseases (NMDs) are genetic disorders that affect the skeletal
muscles or the nerves controlling muscle function. With a new generation of diagnostic …

Molecular characterization of patients with Duchenne or Becker muscular dystrophies is
essential for establishing a differential diagnosis, allowing appropriate clinical follow-up …

Background Currently, there is no cure for Duchenne and Becker muscular dystrophies
(DMD/BMD). However, clinical trials with new therapeutic strategies are being conducted or …

Background Duchenne muscular dystrophy (DMD) manifests in males mainly by skeletal
muscle impairment, but also by cardiac dysfunction. The assessment of the early phases of …

研究背景我国是Duchenne 型和Becker 型肌营养不良症患病率最高的国家之一,
虽然国际间建立的Duchenne 型和Becker 型肌营养不良症数据库为临床药物研发和临床试验 …