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Duchenne Muscular Dystrophy, an inherited and progressive muscle
wasting disease, is one of the most common single gene disorders
found in the developed world. In this fourth edition of the classic
monograph on the topic, Alan Emery and Francesco Muntoni are joined
by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to
provide a thorough update on all aspects of the disorder. Recent
understanding of the nature of the genetic defect responsible for
Duchenne Muscular Dystrophy and isolation of the protein dystrophin
has led to the development of new theories for the disease's
pathogenesis. This new edition incorporates these advances from the
field of molecular biology, and describes the resultant
opportunities for screening, prenatal diagnosis, genetic
counselling and from recent pioneering work with anti-sense
oligonucleotides, the possibility of effective RNA therapy.
Although there is still no cure for the disorder, there have been
significant developments concerning the gene basis, publication of
standards of care guidelines, and improvements in management
leading to significantly longer survival, particularly with
cardio-pulmonary care. The authors also investigate other forms of
pharmacological, cellular and gene therapies. Duchenne Muscular
Dystrophy will be essential reading not only for scientists and
clinicians, but will also appeal to therapists and other
professionals involved in the care of patients with muscular
dystrophy.
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