Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in
2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved …

Duchenne muscular dystrophy is a highly progressive muscle wasting disorder due to
primary abnormalities in one of the largest genes in the human genome, the DMD gene …

Diagnostic Molecular Biology describes the fundamentals of molecular biology in a clear,
concise manner to aid in the comprehension of this complex subject. Each technique …

Abstract Background Duchenne Muscular Dystrophy (DMD) is the most common muscle
disease in children, and there are no effective therapies for DMD or Becker Muscular …

Dystrophinopathy is caused by alterations in DMD. Approximately 1% of patients remain
genetically undiagnosed, because intronic variations are not detected by standard methods …

Dystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and
Becker muscular dystrophy, due to DMD gene variants. In recent years, the application of …

This study aimed to study the diagnostic value of targeted next-generation sequencing
(NGS) in limb-girdle muscular dystrophies (LGMDs), and investigate the mutational …

Rare diseases affect almost 500 million people globally, predominantly impacting children
and often leading to significantly impaired quality of life and high treatment costs. While …

Duchenne muscular dystrophy (DMD), an X-linked recessive condition is maternally
inherited in two-thirds of affected boys. It is important to establish carrier status of female …

Technological advancements have facilitated the availability of reliable and thorough
genetic analysis in many medical fields, including neurology. In this review, we focus on the …