Principles and Practice of the Muscular Dystrophies

Inbunden, Engelska, 2024

Av Pushpa Narayanaswami, Teerin Liewluck

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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.

Produktinformation

Utgivningsdatum2024-02-17
Mått210 x 279 x 24 mm
Vikt1 247 g
FormatInbunden
SpråkEngelska
SerieCurrent Clinical Neurology
Antal sidor348
FörlagSpringer International Publishing AG
ISBN9783031440083

Tillhör följande kategorier

Sjukdomar och rubbningar inom Medicin
Diagnostiska metoder inom Medicin
Biovetenskap inom Naturvetenskap och teknik
Neurologi och klinisk neurofysiologi inom Medicin
Behandling och behandlingsmetoder inom Medicin

Pushpa Narayanaswami, MDAssociate Professor of Neurology, Harvard Medical SchoolVice- Chair, Clinical OperationsDepartment of NeurologyBeth Israel Deaconess Medical CenterNeuroloy TCC-8, BIDMC330 Brookline Avenue Boston MA 02215 Teerin Liewluck, MD, FAAN Consultant, Division of Neuromuscular Medicine and Muscle Laboratory , Department of NeurologyAssociate Professor of Neurology, Mayo Clinic College of Medicine 200 First Street SW Rochester, MN 55905

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.