Duchenne muscular dystrophy due to genetic mutation amenable to exon 45 skipping therapy

Duchenne muscular dystrophy due to a genetic mutation amenable to exon 45 skipping therapy is a genetically defined subset of an X-linked neuromuscular disorder, predominantly affecting males It arises from specific out-of-frame deletions or mutations in the *DMD* gene—representing roughly 8% of all individuals with Duchenne muscular dystrophy—that can be brought back into reading frame by omitting exon 45 during pre-messenger RNA processing

Duchenne muscular dystrophy due to a genetic mutation amenable to exon 45 skipping therapy is a genetically defined subset of an X-linked neuromuscular disorder, predominantly affecting males Pathophysiologically, the primary deficiency of functional dystrophin disrupts the dystrophin-glycoprotein complex, leaving sarcolemmal membranes vulnerable to contraction-induced mechanical injury This leads to progressive skeletal muscle degeneration, replacement of myofibers by fibrofatty tissue, motor d...

It arises from specific out-of-frame deletions or mutations in the *DMD* gene—representing roughly 8% of all individuals with Duchenne muscular dystrophy—that can be brought back into reading frame by omitting exon 45 during pre-messenger RNA processing

It arises from specific out-of-frame deletions or mutations in the *DMD* gene—representing roughly 8% of all individuals with Duchenne muscular dystrophy—that can be brought back into reading frame by omitting exon 45 during pre-messenger RNA processing

Pathophysiologically, the primary deficiency of functional dystrophin disrupts the dystrophin-glycoprotein complex, leaving sarcolemmal membranes vulnerable to contraction-induced mechanical injury

Pathophysiologically, the primary deficiency of functional dystrophin disrupts the dystrophin-glycoprotein complex, leaving sarcolemmal membranes vulnerable to contraction-induced mechanical injury This leads to progressive skeletal muscle degeneration, replacement of myofibers by fibrofatty tissue, motor decline, and eventual life-threatening cardiopulmonary complications

This leads to progressive skeletal muscle degeneration, replacement of myofibers by fibrofatty tissue, motor decline, and eventual life-threatening cardiopulmonary complications