Principles and Practice of the Muscular Dystrophies (eBook, PDF)

Redaktion: Narayanaswami, Pushpa; Liewluck, Teerin

• Format: PDF

Produktbeschreibung

The 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.

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Produktdetails

• Verlag: Springer International Publishing
• Seitenzahl: 348
• Erscheinungstermin: 16. Februar 2024
• Englisch
• ISBN-13: 9783031440090
• Artikelnr.: 70001877

Autorenporträt

Pushpa 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

Inhaltsangabe

An Introduction to the Muscular Dystrophies.- Dystrophinopathies.- Myotonic dystrophies.- Facioscapulohumeral Muscular Dystrophy.- Autosomal Dominant Limb-Girdle Muscular Dystrophies.- Autosomal recessive limb-girdle muscular dystrophy.- Oculopharyngeal Muscular Dystrophy.- Distal Muscular Dystrophies.- GNE MYOPATHY.- Emery-Dreifuss Muscular Dystrophies.- Congenital muscular dystrophies.- Myopathies with myofibrillar pathology.- Oculopharyngodistal myopathy.- Genetic Diagnosis and Counseling in Muscular Dystrophies.- Muscle Imaging in Muscular Dystrophies.- The Role of The Muscle Biopsy in The Era of Genetic Diagnosis.- Systemic Complications of Muscular Dystrophies.- Molecular Genetic Therapies in the Muscular Dystrophies.- Physical therapy, bracing and surgical treatment in muscular dystrophies.- Trial Design and Outcome Measurement in Muscular Dystrophies.