Duchenne muscular dystrophy due to genetic mutation amenable to exon 51 skipping therapy

Duchenne muscular dystrophy due to genetic mutation amenable to exon 51 skipping therapy is an X-linked neuromuscular disorder affecting primarily males, characterized by severe, progressive skeletal muscle degeneration and cardiomyopathy Pathophysiologically, the untreated absence of dystrophin compromises the sarcolemmal cytoskeleton, precipitating early-childhood proximal muscle weakness, loss of ambulation, respiratory insufficiency, and premature mortality Targetable by molecular therapies,...

Duchenne muscular dystrophy due to genetic mutation amenable to exon 51 skipping therapy is an X-linked neuromuscular disorder affecting primarily males, characterized by severe, progressive skeletal muscle degeneration and cardiomyopathy This distinct genetic subset involves specific out-of-frame deletions or mutations in the *DMD* gene—such as deletions of flanking exons—where excluding exon 51 during pre-mRNA splicing restores the translational reading frame Pathophysiologically, the untreate...

This distinct genetic subset involves specific out-of-frame deletions or mutations in the *DMD* gene—such as deletions of flanking exons—where excluding exon 51 during pre-mRNA splicing restores the translational reading frame

This distinct genetic subset involves specific out-of-frame deletions or mutations in the *DMD* gene—such as deletions of flanking exons—where excluding exon 51 during pre-mRNA splicing restores the translational reading frame

Pathophysiologically, the untreated absence of dystrophin compromises the sarcolemmal cytoskeleton, precipitating early-childhood proximal muscle weakness, loss of ambulation, respiratory insufficiency, and premature mortality