Inherited Neuromuscular Diseases [electronic resource] : Translation from Pathomechanisms to Therapies / edited by Carmen Espins, Vicente Felipo, Francesc Palau.

Pathology and Diagnosis of Muscular Dystrophies -- Standards of Care for Duchenne Muscular Dystrophy: Brief Treat-NMD Recommendations -- Genetics and Pathogenesis of Distal Muscular Dystrophies -- Phenotype Variations in Early Onset Pompe Disease: Diagnosis and Treatment Results with Myozymeë -- Diseases of the Human Mitochondrial Oxidative Phosphorylation System -- Mitochondrial Diseases: A Cross-Talk Between Mitochondrial and Nuclear Genomes -- Mitochondrial Disorders Due to Nuclear OXPHOS Gene Defects -- Coenzyme Q10 Deficiencies in Neuromuscular Diseases -- The Role of Mitochondrial Network Dynamics in the Pathogenesis of Charcot-Marie-Tooth Disease -- Pathogenesis and Treatment of Mitochondrial Disorders -- Biology of Peripheral Inherited Neuropathies: Schwann Cell Axonal Interactions -- Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A Duplication -- Genotypes & Sensory Phenotypes in 2 New X-Linked Neuropathies (CMTX3 and dSMAX) and Dominant CMT/HMN Overlap Syndromes -- Natural History and Treatment of Peripheral Inherited Neuropathies -- Spinal Muscular Atrophy During Human Development: Where Are the Early Pathogenic Findings? -- Spinal Muscular Atrophy -- Friedreich Ataxia: An Update on Animal Models, Frataxin Function and Therapies -- Genetics and Pathogenesis of Inherited Ataxias and Spastic Paraplegias.