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Description | |
This volume provides clinicians and scientists with the latest information concerning the muscular dystrophies, paying special attention to the way advancements in molecular and cell biology, biochemistry, and other biological sciences provide comprehensive insights into a group of disorders that have only been studied for the past two decades. Information on both pathogenesis and prospects for treatment are covered, with an emphasis on clinical implications, both now and in the foreseeable future. Clinical wisdom is combined with invaluable perspectives from the most highly experienced physicians, experts, and scientists to bring an authoritative and complete examination of the muscular dystrophies, their diagnosis, and treatments protocols. Insights from this handbook will both enhance and forward efforts for practitioners who care for, and manage, patients with this group of disorders. |
Author Info | |
Edited by Robert C. Griggs, MD, FACP, FAAN, Edward A. and Alma Vollertsen Rykenboer Professor of Neurophysiology, Chair, Department of Neurology, Professor of Medicine, Pathology and Laboratory Medicine, and Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY and Anthony A. Amato, MD, Associate Professor, Department of Neurology, Harvard Medical School; Chief, Neuromuscular Division, Director, Clinical Neurophysiology, Laboratory, Vice-Chairman, Department of Neurology, Brigham and Women's Hospital, Associate Neurologist and Neuromuscular Consultant, Massachusetts General Hospital, Boston, MA |
Table of Contents:
1 Overview of the muscular dystrophies; 2 Dystrophinopathies; 3 Sarcoglycanopathies; 4 Congenital muscular dystrophies; 5 The Collagen VI related myopathies: Ullrich congenital muscular dystrophy and Bethlem myopathy; 6 Limb girdle muscular dystrophy 2A; 7 Dysferlinopathies; 8 Other limb-girdle muascular dystrophies; 9 Limb girdle muscular dystrophy 2H and the role of TRIM32; 10 Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders; 11 Myofibrillar myopathies; 12 Emery Dreifuss muscular dystrophy; 13 Facioscapulohumeral dystrophy and scapuloperoneal syndromes; 14 Oculopharyngeal muscular dystrophy; 15 Myotonic dystrophy type 1 and 2; 16 Distal muscular dystrophies
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