Inherited Neuromuscular Diseases Translation from Pathomechanisms to Therapies [Paperback]

This reference on the state-of-the-art of neuromuscular diseases as a whole offers a current review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, therapies and treatments.

PrefaceContributors Chapter 1: Pathology and Diagnosis of Muscular DystrophiesC. Navarro, S. Teijeira and B. San Mill?n Chapter 2: Standards of Care for Duchenne Muscular Dystrophy: Brief Treat-NMD RecommendationsT. Sejerson and K. Bushby Chapter 3: Genetics and Pathogenesis of Distal Muscular DystrophiesB. Udd Chapter 4: Phenotype Variations in Early Onset Pompe Disease: Diagnosis and Treatment Results With Myozyme ?S.I. Pascual Pascual Chapter 5: Diseases of the Human Mitochondrial Oxidative Phosphorylation SystemJ. Montoya, E. L?pez-Gallardo, M.D. Herrero-Mart?n, I. Mart?nez-Romero, A. G?mez-Dur?n, D. Pacheu, M. Carreras, M.J. L?pez-P?rez and E. Ruiz-Pesini Chapter 6: Mitochondrial Diseases: A Cross-Talk Between Mitochondrial and Nuclear GenomesA. Spinazzola and M. Zeviani Chapter 7: Mitochondrial Disorders Due to Nuclear Oxphos Gene DefectsC. Ugalde, M. Mor?n, A. Bl?zquez, J. Arenas and M.A. Mart?n Chapter 8: Coenzyme Q10 Deficiencies in Neuromuscular DiseasesR. Artuch, L. Salviati, S. Jackson, M. Hirano and P. Navas Chapter 9: The Role of Mitochondrial Network Dynamics in the Pathogenesis of Charcot-Marie-Tooth DiseaseF. Palau, A. Estela, D. Pla-Martin and M. S?nchez-Piris Chapter 10 : Pathogenesis and Treatment of Mitochondrial DisordersS. DiMauro and M. Hirano Chapter 11: Biology of Peripheral Inherited Neuropathies: Schwann Cell Axonal InteractionsM.E. Shy Chapter 12: Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A DuplicationJ. Berciano, A. Garc?a, E. Gallardo, C. Ram?n and O. Combarros Chapter 12: Genotypes & SensoryPhenotypes in 2 New X-linked Neuropathies (CMTX3 and dSMAX) and Dominant CMT/HMN Overlap SyndromesG. Nicholson, M. Kennerson, M. Brewer, J. Garbern and M. Shy Chapter 13: lØ