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Muscle disease [[electronic resource] ] : pathology and genetics / / edited by Hans H. Goebel, Caroline A. Sewry, Roy O. Weller
| Muscle disease [[electronic resource] ] : pathology and genetics / / edited by Hans H. Goebel, Caroline A. Sewry, Roy O. Weller |
| Edizione | [2nd ed.] |
| Pubbl/distr/stampa | Chichester, West Sussex ; ; Hoboken, NJ, : Wiley-Blackwell, 2013 |
| Descrizione fisica | 1 online resource (986 p.) |
| Disciplina | 616.7/4 |
| Altri autori (Persone) |
GoebelH. -H
SewryCaroline A WellerRoy O |
| Soggetto topico |
Muscles - Diseases
Genetics |
| ISBN |
1-118-63548-5
1-118-63546-9 1-118-63549-3 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
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
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 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 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 8: Dystrophin and Its Associated Glycoprotein ComplexIntroduction; Incidence; Clinical features; Pathology; Genetics; Animal models; Conclusions and future perspectives; 9: Proteins of the Extracellular Matrix; Introduction; Congenital muscular dystrophies; Laminin α2 primary deficiency; Collagen VI-related myopathies; Perlecan-related disorders; Laminin β2 and agrin-related disorders; Animal models for extracellular matrix-related disorders; Conclusions and future perspectives; 10: Plasma Membrane Proteins: Dysferlin, Caveolin, PTRF/Cavin, Integrin α7, and Integrin α9; Introduction Dysferlin |
| Record Nr. | UNINA-9910139054603321 |
| Chichester, West Sussex ; ; Hoboken, NJ, : Wiley-Blackwell, 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Muscle disease : pathology and genetics / / edited by Hans H. Goebel, Caroline A. Sewry, Roy O. Weller
| Muscle disease : pathology and genetics / / edited by Hans H. Goebel, Caroline A. Sewry, Roy O. Weller |
| Edizione | [2nd ed.] |
| Pubbl/distr/stampa | Chichester, West Sussex ; ; Hoboken, NJ, : Wiley-Blackwell, 2013 |
| Descrizione fisica | 1 online resource (986 p.) |
| Disciplina | 616.7/4 |
| Altri autori (Persone) |
GoebelH. -H
SewryCaroline A WellerRoy O |
| Soggetto topico |
Muscles - Diseases
Genetics |
| ISBN |
1-118-63548-5
1-118-63546-9 1-118-63549-3 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
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
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 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 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 8: Dystrophin and Its Associated Glycoprotein ComplexIntroduction; Incidence; Clinical features; Pathology; Genetics; Animal models; Conclusions and future perspectives; 9: Proteins of the Extracellular Matrix; Introduction; Congenital muscular dystrophies; Laminin α2 primary deficiency; Collagen VI-related myopathies; Perlecan-related disorders; Laminin β2 and agrin-related disorders; Animal models for extracellular matrix-related disorders; Conclusions and future perspectives; 10: Plasma Membrane Proteins: Dysferlin, Caveolin, PTRF/Cavin, Integrin α7, and Integrin α9; Introduction Dysferlin |
| Record Nr. | UNINA-9910808777203321 |
| Chichester, West Sussex ; ; Hoboken, NJ, : Wiley-Blackwell, 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||