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OverviewThe field of muscular dystrophies has expanded significantly with the discovery of the genetic defects and protein products underlying these disorders. New treatments such as antisense oligonucleotides and siRNAs and gene therapies are now in clinical application and in trials. As clinical trials increase, outcome measurement becomes very important, and more validated tools are being developed. This book provides a comprehensive review of these disorders. Clinical features, diagnostic testing including genetic testing of these disorders, the basis and utility of genetic testing, and the basis of genetic therapies are all covered in detail. This book will provide neuromuscular neurologists, general neurologists, and neuromuscular fellows with a much needed update in the field. Full Product DetailsAuthor: Pushpa Narayanaswami , Teerin LiewluckPublisher: Springer International Publishing AG Imprint: Humana Edition: 1st ed. 2023 Weight: 1.281kg ISBN: 9783031440083ISBN 10: 3031440080 Pages: 348 Publication Date: 17 February 2024 Audience: Professional and scholarly , Professional & Vocational Format: Hardback Publisher's Status: Active Availability: Manufactured on demand  We will order this item for you from a manufactured on demand supplier. Table of Contents1. Introduction and History 2. Classification of muscular dystrophies 3. Dystrophinopathies 4. Myotonic Dystrophy 5. Facioscapulohumeral dystrophy 6. Autosomal dominant Limb-Girdle Muscular Dystrophy 7. Autosomal recessive Limb Girdle Muscular Dystrophy 8. Oculopharyngeal Muscular Dystrophy 9. Distal muscular dystrophies 10. Hereditary Inclusion Body Myopathies 11. Congenital Muscular Dystrophies 12. Myofibrillar Myopathies 13. Diagnostic approach to muscular dystrophies 14. Genetic diagnosis and counseling in muscular dystrophies 15. Muscle Imaging in the muscular dystrophies 16. The role of the muscle biopsy in the era of genetic diagnosis 17. Systemic complications of muscular dystrophies 18. Antisense Oligonucleotide and RNA therapies of muscular dystrophies 19. Physical therapy, bracing and surgical treatment of muscle weakness 20. Outcome Measures in muscular dystrophy 21. Clinical trial design in muscular dystrophiesReviewsAuthor InformationPushpa Narayanaswami, MD Associate Professor of Neurology, Harvard Medical School Vice- Chair, Clinical Operations Department of Neurology Beth Israel Deaconess Medical Center Neuroloy TCC-8, BIDMC 330 Brookline Avenue Boston MA 02215 Teerin Liewluck, MD, FAAN Consultant, Division of Neuromuscular Medicine and Muscle Laboratory , Department of Neurology Associate Professor of Neurology, Mayo Clinic College of Medicine 200 First Street SW Rochester, MN 55905 Tab Content 6Author Website:Countries AvailableAll regions |
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