Mutations in the dystrophin gene cause Duchenne muscular dystrophy (DMD), which is
characterized by lethal degeneration of cardiac and skeletal muscles. Mutations that delete …

Dystrophinopathies are inherited diseases caused by mutations in the dystrophin (DMD)
gene for which testing is mandatory for genetic diagnosis, reproductive choices and …

Duchenne muscular dystrophy (DMD) is caused by the dystrophin gene mutations and is
one of the most common and lethal human hereditary disorders. A novel therapeutic …

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

Duchenne and Becker muscular dystrophies (DMD/BMD) are X‐linked recessive disorders
caused by mutations in the DMD gene. Emerging therapies targeting patients with specific …

Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive
neuromuscular disorders characterized by progressive irreversible muscle weakness and …

Objective To investigate the diagnostic value of implementing a stepwise genetic testing
strategy (SGTS) in genetically unsolved cases with dystrophinopathies. Methods After …

Background Phenotypic heterogeneity within or between families with a same deep-intronic
splice-altering variant in the DMD gene has never been systematically analyzed. This study …

Introduction Duchenne muscular dystrophy (DMD) is a severe X-linked recessive
neuromuscular disease that affects one in 3500 live-born males. The total absence of …