Duchenne muscular dystrophy due to genetic mutation amenable to exon 53 skipping therapy

Duchenne muscular dystrophy due to a genetic mutation amenable to exon 53 skipping therapy is a genetically defined subtype of a severe, X-linked neuromuscular disease that predominantly affects young males This leads to progressive skeletal muscle degeneration, replacement of myofibers by fibrofatty tissue, motor decline, loss of ambulation, and eventual cardiomyopathy and respiratory failure This specific genotypic subset represents approximately 8% of all individuals diagnosed with Duchenne m...

It is caused by specific out-of-frame deletions or mutations in the *DMD* gene where therapeutic exclusion of exon 53 during pre-mRNA splicing can restore the open reading frame

It is caused by specific out-of-frame deletions or mutations in the *DMD* gene where therapeutic exclusion of exon 53 during pre-mRNA splicing can restore the open reading frame

Without intervention, the inability to produce functional dystrophin protein compromises the structural integrity of the sarcolemma during muscle contraction This leads to progressive skeletal muscle degeneration, replacement of myofibers by fibrofatty tissue, motor decline, loss of ambulation, and eventual cardiomyopathy and respiratory failure

Without intervention, the inability to produce functional dystrophin protein compromises the structural integrity of the sarcolemma during muscle contraction

This specific genotypic subset represents approximately 8% of all individuals diagnosed with Duchenne muscular dystrophy