| Description |
1 online resource (xvi, 376 pages) |
| Contents |
Cover; Advisory Editors; Title page; Copyright page; List of Contributors; Preface; List of Abbreviations; 1: Introduction to Muscle Disease: Pathology and Genetics; Introduction; Structure of the book; Conclusion; Section 1: Assessment of Muscle Disease; 2: Clinical Features of Muscle Disease; Introduction; Clinical history and examination; Conclusion; 3: General Pathology of Muscle Disease; Introduction; Selection of muscle to biopsy; Biopsy technique; Tissue preparation; Use of other tissues for diagnosis; Development of human muscle |
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Histological and histochemical features of normal muscleHistological and histochemical defects in pathological muscle; Structural abnormalities; Absence of an enzyme; Storage of a product; Immunohistochemistry; Electron microscopy; Future perspectives; 4: Genetics of Muscle Disease; Introduction; Discovery of genes causing muscle disease; Benefits of finding the mutation causing a disease in a patient; Types of DNA mutations; Blurring of traditional clinical classifications -- parallel nosologies |
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Mutations within the same gene can cause a spectrum of phenotypes (as classified by classic nosology)One disease-related pathology can be caused by mutations in different genes; Some genes are to date only implicated in one disease; Some muscle proteins have not yet been associated with human disease; Interesting recent developments; The way forward, addressing the grand challenges in the genetics of muscle disease; Conclusions and future perspectives; Section 2: Neurogenic Muscle Disease; 5: Neurogenic Muscle Pathology; Defining denervation; Clinical features; Pathophysiology |
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Pathological changesFetal and infantile denervation; Differential diagnosis; Section 3: Diseases of Neuromuscular Transmission; 6: Autoimmune Myasthenias; Introduction; Incidence; Clinical features; Investigations; Treatment and prognosis; Pathology; Genetics; Differential diagnosis; Animal models; Lambert-Eaton myasthenic syndrome; 7: Congenital Myasthenic Syndromes; Introduction; The neuromuscular junction; Clinical features of congenital myasthenic syndromes; Conclusions and future perspectives; Section 4: Sarcolemma: Muscular Dystrophies and Related Disorders |
| Summary |
This book clarifies the pathology and genetics of muscle disease for pathologists, clinicians, geneticists and researchers to aid in the diagnosis and management of patients. Organized around the 'motor unit' concept, this book presents the latest understanding of muscle disease, and how this can help identify new treatments |
| Notes |
Revision of: Structural and molecular basis of skeletal muscle diseases / volume editor, George Karpati. Basel : ISN Neuropath Press, ©2002 |
| Bibliography |
Includes bibliographical references and index |
| Notes |
English |
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Print version record |
| Subject |
Muscles -- Diseases.
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Muscular Diseases -- pathology
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Muscular Diseases
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Muscular Diseases -- genetics
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HEALTH & FITNESS -- Diseases -- Musculoskeletal.
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MEDICAL -- Orthopedics.
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MEDICAL -- Rheumatology.
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Muscles -- Diseases
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| Form |
Electronic book
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| Author |
Goebel, H.-H., editor
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Sewry, Caroline A., editor
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Weller, Roy O., editor
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International Society of Neuropathology, issuing body.
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| ISBN |
9781118635490 |
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1118635493 |
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1299649815 |
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9781299649811 |
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9781118635469 |
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1118635469 |
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9781118635483 |
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1118635485 |
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