Preface; Contents; Contributors; 1 Pathology and Diagnosis of Muscular Dystrophies; 2 Standards of Care for Duchenne Muscular Dystrophy: Brief Treat-NMD Recommendations; 3 Genetics and Pathogenesis of Distal Muscular Dystrophies; 4 Phenotype Variations in Early Onset Pompe Disease: Diagnosis and Treatment Results with Myozyme; 5 Diseases of the Human Mitochondrial Oxidative Phosphorylation System; 6 Mitochondrial Diseases: A Cross-Talk Between Mitochondrial and Nuclear Genomes; 7 Mitochondrial Disorders Due to Nuclear OXPHOS Gene Defects; 8 Coenzyme Q10 Deficiencies in Neuromuscular Diseases
Summary
Presents the development of neuromuscular diseases as a whole, including muscular dystrophies, mitochondrial disorders, peripheral neuropathies, spinal muscular atrophy, motoneurone disease and Friedreich ataxia. This title offers a review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, and treatments
