Duchenne muscular dystrophy (DMD) is one of the most common lethal muscle-wasting
disorders affecting young boys caused by mutations in the DMD gene. Exon skipping has …

Duchenne muscular dystrophy (DMD) leads to disability and death in young men. This
disease is caused by mutations in the DMD gene encoding diverse isoforms of dystrophin …

Purpose The ability of a single technology, next-generation sequencing, to provide both
sequence and copy number variant (CNV) results has driven the merger of clinical …

Background: Loss of dystrophin protein causes Duchenne muscular dystrophy (DMD),
characterized by progressive degeneration of cardiac and skeletal muscles, and mortality in …

Duchenne muscular dystrophy (DMD) is typically caused by mutations that disrupt the DMD
reading frame, but nonsense mutations in the 5′ part of the gene induce utilization of an …

In recent years, remarkable advances in the ability to diagnose genetic disorders have been
made. The identification of disease-causing genes allows the development of gene-specific …

Dystrophin is a large protein serving as local scaffolding repetitively bridging cytoskeleton
and the outside of striated muscle cell. As such dystrophin is a critical brick primarily in …

A nonsense mutation adds a premature stop signal that hinders any further translation of a
protein-coding gene, usually resulting in a null allele. To investigate the possible exceptions …

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

Duchenne muscular dystrophy (DMD) is a fatal, X-linked recessive disorder characterized by
progressive muscle loss and cardiorespiratory complications. Mutations in the DMD gene …