Dystrophin as a therapeutic biomarker: are we ignoring data from the past?
SD Wilton, S Fletcher, KM Flanigan - Neuromuscular Disorders, 2014 - nmd-journal.com
Dystrophin is a subsarcolemmal structural protein that provides a link between the actin
cytoskeleton and a complex of proteins linked to the extracellular matrix. In the absence of
dystrophin, muscle fibres are prone to damage and show altered contractile function and
signaling deficits. Duchenne muscular dystrophy (DMD) is caused by mutations in the
massive dystrophin (DMD) gene that ablate synthesis of the 427kD muscle specific
dystrophin isoform. The development of dystrophin-specific antibodies led to the rapid …
cytoskeleton and a complex of proteins linked to the extracellular matrix. In the absence of
dystrophin, muscle fibres are prone to damage and show altered contractile function and
signaling deficits. Duchenne muscular dystrophy (DMD) is caused by mutations in the
massive dystrophin (DMD) gene that ablate synthesis of the 427kD muscle specific
dystrophin isoform. The development of dystrophin-specific antibodies led to the rapid …