Librería Servicio Médico

Autor:  H. Goebel / A. Sewry / O. Weller 

Encuadernación: 392 págs 

Idioma: English

Referencia: 978-0-470-67205-1

Nº Edición: 2013

Contenido:

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.

Tabla de Contenidos:

• 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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