Written by more than 60 international experts in the field, Muscle Disease embodies the explosion of new concepts and information on the pathology and genetics of muscle disease that has occurred in recent years. In order to accommodate the new complex principles involved, the book is organized around the motor unit and the inherited disorders, in particular, are centered on the ultrastructure and organelles within the muscle fiber. In this way, the wide spectrum of muscle diseases, ranging from neurogenic and inflammatory disorders to those involving defects in a single gene, can be expressed…mehr
Written by more than 60 international experts in the field, Muscle Disease embodies the explosion of new concepts and information on the pathology and genetics of muscle disease that has occurred in recent years. In order to accommodate the new complex principles involved, the book is organized around the motor unit and the inherited disorders, in particular, are centered on the ultrastructure and organelles within the muscle fiber. In this way, the wide spectrum of muscle diseases, ranging from neurogenic and inflammatory disorders to those involving defects in a single gene, can be expressed in a logical sequence. For example, disorders that principally involve specific organelles or particular metabolic processes are grouped together, with sections on disorders of the sarcolemma, mitochondria, myofibrils, glycogen and lipid metabolism, etc. Firm reference to clinical aspects and classification of muscle diseases has been maintained throughout the book with an initial clinical overview and with specific clinical sections in each chapter. For ease of navigation through the complex variety of muscle diseases, each chapter has been organized in a standard pattern that allows the reader to easily locate information on individual disease entities in different chapters. This new edition of Muscle Disease: Pathology and Genetics will be a very valuable resource for clinicians, pathologists, geneticists and basic neuroscientists involved in diagnosis, research, treatment and management of patients with muscle disease.Hinweis: Dieser Artikel kann nur an eine deutsche Lieferadresse ausgeliefert werden.
Edited by Hans H. Goebel, MD, Professor of Neuropathology, Charité - Universitätsmedizin Berlin, Berlin, Germany; Department of Neuropathology, Johannes Gutenberg University, Mainz, Germany, Caroline A. Sewry, PhD, FRCPath, Professor of Muscle Pathology, Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, UK; Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital, Oswestry, UK Roy O. Weller, MD, PhD, FRCPath, Emeritus Professor of Neuropathology, Clinical Neurosciences, University of Southampton School of Medicine, Southampton General Hospital, Southampton, UK
Inhaltsangabe
List of Contributors, vii Preface, xi List of Abbreviations, xiii 1 Introduction to Muscle Disease: Pathology and Genetics, 1 Hans H. Goebel, Caroline A. Sewry and Roy O. Weller Section 1: Assessment of Muscle Disease 2 Clinical Features of Muscle Disease, 6 Marianne de Visser 3 General Pathology of Muscle Disease, 19 Caroline A. Sewry and Hans H. Goebel 4 Genetics of Muscle Disease, 39 Kristen J. Nowak, Phillipa J. Lamont, and Nigel G. Laing Section 2: Neurogenic Muscle Disease 5 Neurogenic Muscle Pathology, 68 Hannes Vogel Section 3: Diseases of Neuromuscular Transmission 6 Autoimmune Myasthenias, 78 Saiju Jacob and Angela Vincent 7 Congenital Myasthenic Syndromes, 86 Amina Chaouch and Hanns Lochmüller Section 4: Sarcolemma: Muscular Dystrophies and Related Disorders 8 Dystrophin and Its Associated Glycoprotein Complex, 95 Rita Barresi and Susan C. Brown 9 Proteins of the Extracellular Matrix, 102 Cecilia Jimenez-Mallebrera, A. Reghan Foley, and Carsten G. Bönnemann 10 Plasma Membrane Proteins: Dysferlin, Caveolin, PTRF/Cavin, Integrin 7, and Integrin 9, 108 Volker Straub, Liesbeth De Waele, and Rita Barresi 11 Sarcolemmal Ion Channelopathies, 118 Karin Jurkat-Rott and Frank Lehmann-Horn Section 5: Disorders of Nuclear Proteins and Nuclear Positioning 12 Proteins of the Nuclear Membrane and Matrix, 126 Antje Bornemann 13 Centronuclear Myopathies, 134 Norma Beatriz Romero and Jocelyn Laporte Section 6: Early- and Late-Onset Disorders of Myofibrils 14 Thin Filament Proteins: Nemaline and Related Congenital Myopathies, 145 Michael W. Lawlor and Alan H. Beggs 15 Nebulin: Nemaline Myopathies and Associated Disorders, 152 Carina Wallgren-Pettersson, Hannu Kalimo, and Martin Lammens 16 Myosins, 157 Anders Oldfors 17 Disorders Caused by Mutant Z-disk Proteins, 163 Montse Olivé, Isidro Ferrer, and Lev G. Goldfarb 18 Titin-related Distal Myopathies, 171 Bjarne Udd 19 Scapuloperoneal Disorders and Reducing Body Myopathy Associated with the Four and Half LIM Domain Protein 1, 175 Joachim Schessl Section 7: Disorders Associated with Intermediate Filaments 20 Desminopathies, 178 Rolf Schröder and Christoph S. Clemen 21 Plectinopathies, 185 Lilli Winter, Rolf Schröder, and Gerhard Wiche Section 8: Mitochondria 22 Mitochondrial Myopathies, 193 Anders Oldfors Section 9: Sarcoplasmic Reticulum and T-tubules 23 Core Myopathies, Malignant Hyperthermia Susceptibility, and Brody Disease, 214 Heinz Jungbluth Section 10: Cytoplasmic Proteins 24 Enzymes: Cytosolic Proteins Calpain-3, SEPN1, and GNE, 225 Volker Straub, Liesbeth De Waele, and Rita Barresi 25 Proteins of Autophagy: LAMP-2, VMA21, VCP, and TRIM32, 234 May Christine V. Malicdan and Ichizo Nishino 26 Chaperone Proteins, 246 Kristl G. Claeys and Joachim Weis 27 Kelch Proteins, 252 Kyle S. Yau, Montse Olivé, Phillipa J. Lamont, and Nigel G. Laing Section 11: Metabolic and Storage Disorders 28 Disorders of Muscle Glycogen Metabolism, 254 John Vissing 29 Disorders of Lipid Metabolism, 265 Wen-Chen Liang and Ichizo Nishino Section 12: Muscle Diseases with DNA Expansions 30 Myotonic Dystrophies Type 1 and 2, 273 Benedikt Schoser 31 Oculopharyngeal Muscular Dystrophy, 284 Bernard Brais Section 13: Facioscapulohumeral Dystrophy 32 Facioscapulohumeral Dystrophy, 288 Kevin M. Flanigan and Scott Q. Harper Section 14: Inflammatory Myopathies 33 Polymyositis, Dermatomyositis, and Inclusion Body Myositis, 298 Janice L. Holton, Lucy R. Wedderburn, and Michael G. Hanna 34 Muscle Involvement in Connective Tissue Disorders: Polyarteritis, Rheumatoid Arthritis, Systemic Lupus Erythematosus, Systemic Sclerosis, and Sjögren Syndrome, 313 Elisabeth J. Rushing 35 Granulomatous and Other Immune-mediated Myopathies, 316 Werner Stenzel 36 Muscle Disorders Associated with Infections, 321 Leila Chimelli and Ana Lia Taratuto Section 15: Toxic Myopathies 37 Reactions of Muscle to Toxins and Drugs, 328 Eleonora Aronica and Werner Stenzel Section 16: Aging and Systemic Disease 38 Muscle Disease Associated with Age and Systemic Disorders, 339 Hannes Vogel Section 17: Rare Structural Abnormalities 39 Disorders of Muscle with Rare Structural Abnormalities, 351 Hans H. Goebel, Mehar C. Sharma, Ana Lia Taratuto, and Kristl G. Claeys Index, 361
List of Contributors, vii Preface, xi List of Abbreviations, xiii 1 Introduction to Muscle Disease: Pathology and Genetics, 1 Hans H. Goebel, Caroline A. Sewry and Roy O. Weller Section 1: Assessment of Muscle Disease 2 Clinical Features of Muscle Disease, 6 Marianne de Visser 3 General Pathology of Muscle Disease, 19 Caroline A. Sewry and Hans H. Goebel 4 Genetics of Muscle Disease, 39 Kristen J. Nowak, Phillipa J. Lamont, and Nigel G. Laing Section 2: Neurogenic Muscle Disease 5 Neurogenic Muscle Pathology, 68 Hannes Vogel Section 3: Diseases of Neuromuscular Transmission 6 Autoimmune Myasthenias, 78 Saiju Jacob and Angela Vincent 7 Congenital Myasthenic Syndromes, 86 Amina Chaouch and Hanns Lochmüller Section 4: Sarcolemma: Muscular Dystrophies and Related Disorders 8 Dystrophin and Its Associated Glycoprotein Complex, 95 Rita Barresi and Susan C. Brown 9 Proteins of the Extracellular Matrix, 102 Cecilia Jimenez-Mallebrera, A. Reghan Foley, and Carsten G. Bönnemann 10 Plasma Membrane Proteins: Dysferlin, Caveolin, PTRF/Cavin, Integrin 7, and Integrin 9, 108 Volker Straub, Liesbeth De Waele, and Rita Barresi 11 Sarcolemmal Ion Channelopathies, 118 Karin Jurkat-Rott and Frank Lehmann-Horn Section 5: Disorders of Nuclear Proteins and Nuclear Positioning 12 Proteins of the Nuclear Membrane and Matrix, 126 Antje Bornemann 13 Centronuclear Myopathies, 134 Norma Beatriz Romero and Jocelyn Laporte Section 6: Early- and Late-Onset Disorders of Myofibrils 14 Thin Filament Proteins: Nemaline and Related Congenital Myopathies, 145 Michael W. Lawlor and Alan H. Beggs 15 Nebulin: Nemaline Myopathies and Associated Disorders, 152 Carina Wallgren-Pettersson, Hannu Kalimo, and Martin Lammens 16 Myosins, 157 Anders Oldfors 17 Disorders Caused by Mutant Z-disk Proteins, 163 Montse Olivé, Isidro Ferrer, and Lev G. Goldfarb 18 Titin-related Distal Myopathies, 171 Bjarne Udd 19 Scapuloperoneal Disorders and Reducing Body Myopathy Associated with the Four and Half LIM Domain Protein 1, 175 Joachim Schessl Section 7: Disorders Associated with Intermediate Filaments 20 Desminopathies, 178 Rolf Schröder and Christoph S. Clemen 21 Plectinopathies, 185 Lilli Winter, Rolf Schröder, and Gerhard Wiche Section 8: Mitochondria 22 Mitochondrial Myopathies, 193 Anders Oldfors Section 9: Sarcoplasmic Reticulum and T-tubules 23 Core Myopathies, Malignant Hyperthermia Susceptibility, and Brody Disease, 214 Heinz Jungbluth Section 10: Cytoplasmic Proteins 24 Enzymes: Cytosolic Proteins Calpain-3, SEPN1, and GNE, 225 Volker Straub, Liesbeth De Waele, and Rita Barresi 25 Proteins of Autophagy: LAMP-2, VMA21, VCP, and TRIM32, 234 May Christine V. Malicdan and Ichizo Nishino 26 Chaperone Proteins, 246 Kristl G. Claeys and Joachim Weis 27 Kelch Proteins, 252 Kyle S. Yau, Montse Olivé, Phillipa J. Lamont, and Nigel G. Laing Section 11: Metabolic and Storage Disorders 28 Disorders of Muscle Glycogen Metabolism, 254 John Vissing 29 Disorders of Lipid Metabolism, 265 Wen-Chen Liang and Ichizo Nishino Section 12: Muscle Diseases with DNA Expansions 30 Myotonic Dystrophies Type 1 and 2, 273 Benedikt Schoser 31 Oculopharyngeal Muscular Dystrophy, 284 Bernard Brais Section 13: Facioscapulohumeral Dystrophy 32 Facioscapulohumeral Dystrophy, 288 Kevin M. Flanigan and Scott Q. Harper Section 14: Inflammatory Myopathies 33 Polymyositis, Dermatomyositis, and Inclusion Body Myositis, 298 Janice L. Holton, Lucy R. Wedderburn, and Michael G. Hanna 34 Muscle Involvement in Connective Tissue Disorders: Polyarteritis, Rheumatoid Arthritis, Systemic Lupus Erythematosus, Systemic Sclerosis, and Sjögren Syndrome, 313 Elisabeth J. Rushing 35 Granulomatous and Other Immune-mediated Myopathies, 316 Werner Stenzel 36 Muscle Disorders Associated with Infections, 321 Leila Chimelli and Ana Lia Taratuto Section 15: Toxic Myopathies 37 Reactions of Muscle to Toxins and Drugs, 328 Eleonora Aronica and Werner Stenzel Section 16: Aging and Systemic Disease 38 Muscle Disease Associated with Age and Systemic Disorders, 339 Hannes Vogel Section 17: Rare Structural Abnormalities 39 Disorders of Muscle with Rare Structural Abnormalities, 351 Hans H. Goebel, Mehar C. Sharma, Ana Lia Taratuto, and Kristl G. Claeys Index, 361
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