Principles and Practice of the Muscular Dystrophies

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.

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• Neurologia e neurofisiologia clínica
• Doenças e desvios
• Diagnóstico médico
• Terapia e terapêutica
• Neurociências

Muscular Dystrophies;clinical features;diagnosis;Genetics;antisense oligonucleotides;gene therapy