Muscle biopsies in clinical trials for Duchenne muscular dystrophy – patients’ and caregivers’ perspective

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Duchenne muscular dystrophy (DMD) is a devastating disorder hallmarked by progressive muscle weakness leading to loss of ambulation in childhood, respiratory insufficiency, cardiomyopathy and early death [1]. Mutations in the DMD gene lead to absence of the dystrophin protein that normally links the extracellular matrix to the contractile elements in the sarcolemma, which is thought to protect skeletal muscle fibres from contraction induced damage [2]. Muscle pathology consists of inflammation, failed muscle regeneration and a progressive replacement of muscle by fibrotic tissue and fat [3].

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