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Emergencies in neuromuscular disorders / / edited by Maxwell Damian and Marianne de Visser
| Emergencies in neuromuscular disorders / / edited by Maxwell Damian and Marianne de Visser |
| Pubbl/distr/stampa | Cham, Switzerland : , : Springer, , [2022] |
| Descrizione fisica | 1 online resource (460 pages) |
| Disciplina | 616.744 |
| Soggetto topico | Neurological emergencies |
| ISBN | 3-030-91932-3 |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto |
Intro -- Foreword -- Preface -- Contents -- Contributors -- Chapter 1: Recognition and Assessment of the Neuromuscular Emergency -- Introduction -- Presentation in the Emergency Department -- History-Taking -- Neurological Examination -- Risk Assessment -- Examination of Cardiac, Autonomic, and Respiratory Function and Skin Inspection -- Conclusion -- Self Assessment Questions -- References -- Chapter 2: Diagnostic Tests in the Acute Setting: Strengths and Limitations -- Introduction: Known and Unknown Unknowns -- Laboratory Values -- Electrolytes (Sodium, Potassium, Calcium, Magnesium) -- Serum Creatine Kinase Activity -- Troponins -- Thyroid-Stimulating Hormone (TSH) -- C-Reactive Protein (CRP) -- "Liver Function Tests': Alanine Aminotransferase (ALT), Aspartate Aminotransferase (AST), and γ-Glutamyl Transferase (γGT) -- Creatinine -- Erythrocyte Sedimentation Rate (ESR) -- Blood Count -- Blood Gas Analysis -- Lactate -- CSF -- Myoglobin -- Immunofixation -- Virology -- Porphyria Screening -- Toxicology Screening -- Autoantibodies -- Soluble Interleukin-2 Receptor -- Ferritin -- Molecular Genetics -- Electrodiagnostic Studies -- Introduction -- Indications -- Caveats -- Brief Summary of Electrodiagnostic Techniques -- Additional Studies Used in a Critical Care Setting -- Phrenic Motor Study -- Diaphragmatic EMG -- Direct Muscle Stimulation (DMS) -- Patterns of Abnormalities Encountered in Neuromuscular Disorders in the Critical Care Unit -- Practical Aspects of Performing Electrodiagnostic Studies in the Intensive Care Setting -- Limitations and Statistical Considerations -- Spirometry -- Imaging -- Imaging in the Detection of Acute Muscle Damage, That Is, Oedema -- Imaging for the Detection (and Possibly Classification) of Acute Peripheral Nerve Damage -- Imaging of the Diaphragm -- Imaging of the CNS -- Spinal Imaging -- Brain Imaging.
Stroke-Like Episodes -- White Matter Abnormalities -- Cardiac Imaging -- Histology/Cytology -- Muscle Biopsy -- Nerve Biopsy -- Blood Film Examination -- Self Assessment Questions -- References -- Chapter 3: Respiratory Management in Acute Neuromuscular Disease -- Introduction -- Central Components of Mechanical Respiratory Failure -- Peripheral Component of Mechanical Respiratory Failure -- Measurable Pathophysiology in Mechanical Respiratory Failure -- Clinical Recognition of Acute Respiratory Failure -- Causes of Acute Mechanical Respiratory Failure -- Neurophysiological and Dynamic Testing -- ICU Level of Care -- Tracheostomy -- Liberating the Patient from Mechanical Ventilation -- Summary -- Self Assessment Questions -- References -- Chapter 4: Management of Respiratory Emergencies in Chronic Neuromuscular Disease -- Introduction -- Respiratory Muscle Weakness Due to Neuromuscular Disease -- Insufficient Ventilation -- Bulbar Dysfunction -- Ineffective Cough -- Evaluation -- Respiratory Muscle Weakness -- Diaphragmatic Function -- Cough Assessment -- Symptoms and Signs of Respiratory Failure -- Management of Acute Respiratory Failure -- Mechanical Ventilation -- Interfaces -- NIPPV: Initial Settings and Practical Aspects -- Air Stacking and Mechanical In- and Exsufflation -- Conclusion -- Self Assessment Questions -- References -- Chapter 5: Weaning from the Ventilator and Long-Term Respiratory Support -- Current Concepts on Long-Term Ventilation of Neuromuscular Patients -- Considerations of Respiratory Management in Children -- Patterns of Respiratory Muscle Dysfunction and Spinal and Thoracic Complications in Neuromuscular Diseases -- Setting Up and Follow-Up of Home Ventilation in an Adult with a Neuromuscular Disease -- Initiating Home Ventilation at the Pediatric Age -- Weaning an Adult from Ventilation. Weaning a Child with Neuromuscular Disease -- Self Assessment Questions -- References -- Chapter 6: Emergencies in Motor Neuron Diseases -- Introduction -- Emergencies in Spinal Muscular Atrophy -- Diagnosis -- Choking -- Respiratory Emergency -- Metabolic Management During Emergency/Surgical Procedures -- Fractures -- Emergencies in Amyotrophic Lateral Sclerosis -- Respiratory Failure -- Choking -- Risks of Gastrostomy Tube Placement -- Laryngospasm and Stridor -- Deep Venous Thrombosis and Pulmonary Embolus -- Concluding Remarks -- Self Assessment Questions -- References -- Chapter 7: Emergencies in Peripheral Neuropathies -- Introduction -- Guillain-Barré Syndrome -- Epidemiology -- Pathophysiology -- Clinical Presentation -- Variants of GBS -- Diagnosis and Diagnostic Investigations -- Differential Diagnosis -- Therapeutic Management -- Initial Evaluation in the Emergency Department -- Management in the Intensive Care Unit -- Immunomodulatory Therapy -- Prognosis -- Other Peripheral Neuropathy Emergencies -- Self Assessment Questions -- References -- Chapter 8: Infectious Diseases of the Peripheral Nerve and Spinal Cord -- Introduction -- Localisation by Site of Involvement -- Cranial Nerves -- Spinal Cord -- Dorsal Root Ganglion, Nerve Roots and Plexus -- Peripheral Nerve -- Subgroups that Warrant Special Attention -- Children, Pregnant Women and Elderly Populations -- Immunosuppression Due to Treatment -- Neuromuscular Emergencies in Low-Income Societies -- The Returning Traveller -- The Non-immunised/Partially Immunised Host -- Specific Infections -- Viruses -- HIV -- Corona Virus: Sars-CoV-2 (COVID-19) -- Rabies -- Bacteria -- Borrelia Burgdorferi (Lyme Disease) -- Clostridium Botulinum (Botulism) -- Corynebacterium Diphtheriae (Diphtheria) -- Clostridium Tetani (Tetanus) -- Treponema Pallidum (Syphilis). Mycobacterium Tuberculosis (Tuberculosis) -- Helminths -- Schistosomiasis -- Self Assessment Questions -- References -- Chapter 9: The Acute and Emergency Management of Neuromuscular Junction Disorders -- Introduction: The Physiology of Neuromuscular Junction Transmission -- Autoimmune Myasthenia Gravis -- Epidemiology and Clinical Presentation -- Pathophysiology -- Diagnosis of MG -- General Principles of Treatment of MG -- Assessment of the Acutely Unstable MG Patient -- Myasthenic Crisis: Management in the ICU -- Elective ICU Admission in Myasthenia Gravis -- Myasthenia Related to Immune Checkpoint Inhibitors -- Other Neuromuscular Junction Syndromes -- Lambert-Eaton Syndrome -- Botulism -- Nerve Agents -- Congenital Myasthenic Syndromes (CMS) -- Epidemiology and Classification -- Clinical Presentation and Diagnosis -- General Principles of Treatment of CMS -- Pharmacological Treatment of CMS -- Self Assessment Questions -- References -- Chapter 10: Emergencies in Acute Myopathies: Acute Toxic Myopathies, Rhabdomyolysis, and Malignant Hyperthermia -- Rhabdomyolysis and Acute Toxic Myopathies -- Introduction and Definition -- Epidemiology and Clinical Presentation -- Clinical Presentation -- Pathophysiology -- Diagnosis -- Prognosis -- General Principles of Rhabdomyolysis Treatment -- Malignant Hyperthermia -- Introduction and Definition -- Epidemiology -- Clinical Description -- Etiology and Pathophysiology -- Diagnosis -- Principles of Malignant Hyperthermia (MH) Treatment -- Prognosis and Prevention -- Self Assessment Questions -- References -- Chapter 11: Emergencies in Idiopathic Inflammatory Myopathies -- Introduction -- Idiopathic Inflammatory Myopathies -- Epidemiology and Clinical Presentation of Idiopathic Inflammatory Myopathies -- Epidemiology -- Clinical Presentation and Ancillary Investigations -- Muscle Involvement. Skin Abnormalities -- Respiratory Failure -- Dysphagia -- Systemic Symptoms -- Cardiac Involvement -- Presentation in Children -- Pathophysiology -- Dermatomyositis -- Other Subtypes -- Diagnosis and Classification of Idiopathic Inflammatory Myopathies -- Diagnostic Tests -- Cancer-Related IIM -- General Principles of Treatment for Inflammatory Myopathies -- Emergencies and their Management -- Management of Severe Muscle Weakness -- Management of Severe Dysphagia -- Management of Interstitial Lung Disease -- Management of Cardiac Involvement -- Management of Cancer-Associated Myositis (CAM) -- Management of Immune Checkpoint Inhibitor-Related Myositis -- Management of Severe Cutaneous Lesions -- Conclusion -- Self Assessment Questions -- References -- Chapter 12: The Emergency and Intensive Care Management of Metabolic Myopathies -- Introduction Epidemiology, Pathophysiology, and Clinical Presentation -- Epidemiology and Classification -- Disorders of Glycogen and Glucose Metabolism -- Disorders of Fatty Acid Metabolism -- Pathophysiology -- Disorders of Glycogen and Glucose Metabolism -- Disorders of Fatty Acid Metabolism -- Clinical Presentation -- Disorders of Glycogen and Glucose Metabolism -- Disorders of Fatty Acid Metabolism -- Diagnosis and General Principles of Management -- Diagnostic Testing in Glycogenoses -- Diagnostic Testing in Disorders of Fatty Acid Metabolism -- General Principles of Management -- Management of Emergencies in Metabolic Myopathies -- Glycogen Storage Disorders -- Fatty Acid Oxidation Disorders -- Planned Anaesthesia and Ventilation in ICU -- Self Assessment Questions -- References -- Chapter 13: Intensive Care Implications in Primary Mitochondrial Disease -- Introduction -- Diagnostic Work-Up in Suspected Mitochondrial Disease at the ICU -- Genetics of Mitochondrial Disease. General Approach to Critical Illness in Patients with Mitochondrial Disease. |
| Record Nr. | UNINA-9910616391803321 |
| Cham, Switzerland : , : Springer, , [2022] | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Neuromuscular disease : a case-based approach / / John H.J. Wokke, Peter A. van Doorn, Jessica E. Hoogendijk, and Marianne de Visser [[electronic resource]]
| Neuromuscular disease : a case-based approach / / John H.J. Wokke, Peter A. van Doorn, Jessica E. Hoogendijk, and Marianne de Visser [[electronic resource]] |
| Autore | Wokke John H. J. <1952-> |
| Pubbl/distr/stampa | Cambridge : , : Cambridge University Press, , 2013 |
| Descrizione fisica | 1 online resource (x, 171 pages) : digital, PDF file(s) |
| Disciplina | 616.8 |
| Collana | Cambridge medicine |
| Soggetto topico | Musculoskeletal system - Diseases |
| ISBN |
1-107-23259-7
1-107-32638-9 1-107-33282-6 0-511-73590-1 1-107-33614-7 1-107-33219-2 1-107-33448-9 1-299-25739-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Introduction: approach to the patient -- Part I: Motor neurone diseases -- Case 1: Classical amyotrophic lateral sclerosis -- Case 2: ALS with frontotemporal dementia -- Case 3: Primary lateral sclerosis -- Case 4: Progressive muscular atrophy -- Case 5: Kennedy disease -- Case 6: Spinal muscular atrophy type III, Kugelberg-Welander disease -- Case 7: Post-polio syndrome -- Case 8: Spinal dural fistula -- Part II: Neuropathies -- Case 9: Charcot-Marie-Tooth disease type 1A -- Case 10: Hereditary neuropathy with liability to pressure palsy -- Case 11: Charcot-Marie-Tooth disease type 2A, mitofusinopathy -- Case 12: X-linked Charcot-Marie-Tooth disease -- Case 13: Hereditary sensory and autonomic neuropathy type 4 -- Case 14: Guillain-Barre syndrome -- Case 15: Miller-Fisher syndrome -- Case 16: Chronic inflammatory demyelinating polyneuropathy -- Case 17: Multifocal motor neuropathy -- Case 18: Peripheral nerve hyperexcitability syndrome, Morvan's syndrome -- Case 19: Vasculitic neuropathy -- Case 20: Neuropathy and ataxia caused by IgM gammopathy -- Case 21: Polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes -- Case 22: Subacute sensory paraneoplastic neuropathy and ganglionopathy -- Case 23: Neurolymphomatosis -- Case 24: Diabetic neuropathy -- Case 25: Alcohol neuropathy -- Case 26: HIV neuropathy -- Case 27: Lyme radiculoneuritis -- Case 28: Lepromatous neuropathy -- Case 29: Toxic iatrogenic neuropathy -- Case 30: Idiopathic neuralgic amyotrophy -- Case 31: Small nerve fibre neuropathy -- Case 32: Critical illness polyneuropathy -- Case 33: Chronic idiopathic axonal polyneuropathy -- Part III: Neuromuscular Junction Disorders -- Case 34: Classic myasthenia gravis -- Case 35: Myasthenia gravis with autoantibodies to MuSK -- Case 36: Lambert-Eaton myasthenic syndrome -- Case 37: Congenital myasthenic syndrome: slow channel syndrome -- Part IV: Myopathies -- Case 38: Becker muscular dystrophy -- Case 39: Caveolinopathy, including limb girdle muscular dystrophy type 1C -- Case 40: Limb girdle muscular dystrophy type 2A, calpainopathy -- Case 41: Limb girdle muscular dystrophy type 2I, fukutin-related protein deficiency -- Case 42: Emery-Dreifuss muscular dystrophy -- Case 43: Facio-scapulo-humeral dystrophy -- Case 44: Miyoshi myopathy, dysferlinopathy, limb girdle muscular dystrophy type 2B -- Case 45: Distal myopathy with rimmed vacuoles, hereditary inclusion body myopathy -- Case 46: Oculopharyngeal muscular dystrophy -- Case 47: A woman with a family history of muscle weakness and severe cardiac complaints, desminopathy -- Case 48: Late-onset congenital myopathy caused by a mutation in the RYR1 gene, central core disease -- Case 49: Bethlem myopathy -- Case 50: Myotonic dystrophy type 1, Curschmann-Steinert disease -- Case 51: Myotonic dystrophy type 2, proximal myotonic myopathy -- Case 52: Becker myotonia, chloride channelopathy -- Case 53: Glycogen storage disease type 2, Pompe disease -- Case 54: Glycogen storage disease type 5, McArdle disease -- Case 55: Mitochondrial disease: progressive ophthalmoplegia -- Case 56: Myositis -- Case 57: Sporadic inclusion body myositis -- Case 58: Sarcoid myopathy -- Case 59: Hypothyroid myopathy. |
| Record Nr. | UNINA-9910465657903321 |
Wokke John H. J. <1952->
|
||
| Cambridge : , : Cambridge University Press, , 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Neuromuscular disease : a case-based approach / / John H.J. Wokke, Peter A. van Doorn, Jessica E. Hoogendijk, and Marianne de Visser [[electronic resource]]
| Neuromuscular disease : a case-based approach / / John H.J. Wokke, Peter A. van Doorn, Jessica E. Hoogendijk, and Marianne de Visser [[electronic resource]] |
| Autore | Wokke John H. J. <1952-> |
| Pubbl/distr/stampa | Cambridge : , : Cambridge University Press, , 2013 |
| Descrizione fisica | 1 online resource (x, 171 pages) : digital, PDF file(s) |
| Disciplina | 616.8 |
| Collana | Cambridge medicine |
| Soggetto topico | Musculoskeletal system - Diseases |
| ISBN |
1-107-23259-7
1-107-32638-9 1-107-33282-6 0-511-73590-1 1-107-33614-7 1-107-33219-2 1-107-33448-9 1-299-25739-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Introduction: approach to the patient -- Part I: Motor neurone diseases -- Case 1: Classical amyotrophic lateral sclerosis -- Case 2: ALS with frontotemporal dementia -- Case 3: Primary lateral sclerosis -- Case 4: Progressive muscular atrophy -- Case 5: Kennedy disease -- Case 6: Spinal muscular atrophy type III, Kugelberg-Welander disease -- Case 7: Post-polio syndrome -- Case 8: Spinal dural fistula -- Part II: Neuropathies -- Case 9: Charcot-Marie-Tooth disease type 1A -- Case 10: Hereditary neuropathy with liability to pressure palsy -- Case 11: Charcot-Marie-Tooth disease type 2A, mitofusinopathy -- Case 12: X-linked Charcot-Marie-Tooth disease -- Case 13: Hereditary sensory and autonomic neuropathy type 4 -- Case 14: Guillain-Barre syndrome -- Case 15: Miller-Fisher syndrome -- Case 16: Chronic inflammatory demyelinating polyneuropathy -- Case 17: Multifocal motor neuropathy -- Case 18: Peripheral nerve hyperexcitability syndrome, Morvan's syndrome -- Case 19: Vasculitic neuropathy -- Case 20: Neuropathy and ataxia caused by IgM gammopathy -- Case 21: Polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes -- Case 22: Subacute sensory paraneoplastic neuropathy and ganglionopathy -- Case 23: Neurolymphomatosis -- Case 24: Diabetic neuropathy -- Case 25: Alcohol neuropathy -- Case 26: HIV neuropathy -- Case 27: Lyme radiculoneuritis -- Case 28: Lepromatous neuropathy -- Case 29: Toxic iatrogenic neuropathy -- Case 30: Idiopathic neuralgic amyotrophy -- Case 31: Small nerve fibre neuropathy -- Case 32: Critical illness polyneuropathy -- Case 33: Chronic idiopathic axonal polyneuropathy -- Part III: Neuromuscular Junction Disorders -- Case 34: Classic myasthenia gravis -- Case 35: Myasthenia gravis with autoantibodies to MuSK -- Case 36: Lambert-Eaton myasthenic syndrome -- Case 37: Congenital myasthenic syndrome: slow channel syndrome -- Part IV: Myopathies -- Case 38: Becker muscular dystrophy -- Case 39: Caveolinopathy, including limb girdle muscular dystrophy type 1C -- Case 40: Limb girdle muscular dystrophy type 2A, calpainopathy -- Case 41: Limb girdle muscular dystrophy type 2I, fukutin-related protein deficiency -- Case 42: Emery-Dreifuss muscular dystrophy -- Case 43: Facio-scapulo-humeral dystrophy -- Case 44: Miyoshi myopathy, dysferlinopathy, limb girdle muscular dystrophy type 2B -- Case 45: Distal myopathy with rimmed vacuoles, hereditary inclusion body myopathy -- Case 46: Oculopharyngeal muscular dystrophy -- Case 47: A woman with a family history of muscle weakness and severe cardiac complaints, desminopathy -- Case 48: Late-onset congenital myopathy caused by a mutation in the RYR1 gene, central core disease -- Case 49: Bethlem myopathy -- Case 50: Myotonic dystrophy type 1, Curschmann-Steinert disease -- Case 51: Myotonic dystrophy type 2, proximal myotonic myopathy -- Case 52: Becker myotonia, chloride channelopathy -- Case 53: Glycogen storage disease type 2, Pompe disease -- Case 54: Glycogen storage disease type 5, McArdle disease -- Case 55: Mitochondrial disease: progressive ophthalmoplegia -- Case 56: Myositis -- Case 57: Sporadic inclusion body myositis -- Case 58: Sarcoid myopathy -- Case 59: Hypothyroid myopathy. |
| Record Nr. | UNINA-9910792070903321 |
|
Wokke John H. J. <1952->
|
||
| Cambridge : , : Cambridge University Press, , 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||
Neuromuscular disease : a case-based approach / / John H.J. Wokke, Peter A. van Doorn, Jessica E. Hoogendijk, and Marianne de Visser [[electronic resource]]
| Neuromuscular disease : a case-based approach / / John H.J. Wokke, Peter A. van Doorn, Jessica E. Hoogendijk, and Marianne de Visser [[electronic resource]] |
| Autore | Wokke John H. J. <1952-> |
| Pubbl/distr/stampa | Cambridge : , : Cambridge University Press, , 2013 |
| Descrizione fisica | 1 online resource (x, 171 pages) : digital, PDF file(s) |
| Disciplina | 616.8 |
| Collana | Cambridge medicine |
| Soggetto topico | Musculoskeletal system - Diseases |
| ISBN |
1-107-23259-7
1-107-32638-9 1-107-33282-6 0-511-73590-1 1-107-33614-7 1-107-33219-2 1-107-33448-9 1-299-25739-9 |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Nota di contenuto | Introduction: approach to the patient -- Part I: Motor neurone diseases -- Case 1: Classical amyotrophic lateral sclerosis -- Case 2: ALS with frontotemporal dementia -- Case 3: Primary lateral sclerosis -- Case 4: Progressive muscular atrophy -- Case 5: Kennedy disease -- Case 6: Spinal muscular atrophy type III, Kugelberg-Welander disease -- Case 7: Post-polio syndrome -- Case 8: Spinal dural fistula -- Part II: Neuropathies -- Case 9: Charcot-Marie-Tooth disease type 1A -- Case 10: Hereditary neuropathy with liability to pressure palsy -- Case 11: Charcot-Marie-Tooth disease type 2A, mitofusinopathy -- Case 12: X-linked Charcot-Marie-Tooth disease -- Case 13: Hereditary sensory and autonomic neuropathy type 4 -- Case 14: Guillain-Barre syndrome -- Case 15: Miller-Fisher syndrome -- Case 16: Chronic inflammatory demyelinating polyneuropathy -- Case 17: Multifocal motor neuropathy -- Case 18: Peripheral nerve hyperexcitability syndrome, Morvan's syndrome -- Case 19: Vasculitic neuropathy -- Case 20: Neuropathy and ataxia caused by IgM gammopathy -- Case 21: Polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes -- Case 22: Subacute sensory paraneoplastic neuropathy and ganglionopathy -- Case 23: Neurolymphomatosis -- Case 24: Diabetic neuropathy -- Case 25: Alcohol neuropathy -- Case 26: HIV neuropathy -- Case 27: Lyme radiculoneuritis -- Case 28: Lepromatous neuropathy -- Case 29: Toxic iatrogenic neuropathy -- Case 30: Idiopathic neuralgic amyotrophy -- Case 31: Small nerve fibre neuropathy -- Case 32: Critical illness polyneuropathy -- Case 33: Chronic idiopathic axonal polyneuropathy -- Part III: Neuromuscular Junction Disorders -- Case 34: Classic myasthenia gravis -- Case 35: Myasthenia gravis with autoantibodies to MuSK -- Case 36: Lambert-Eaton myasthenic syndrome -- Case 37: Congenital myasthenic syndrome: slow channel syndrome -- Part IV: Myopathies -- Case 38: Becker muscular dystrophy -- Case 39: Caveolinopathy, including limb girdle muscular dystrophy type 1C -- Case 40: Limb girdle muscular dystrophy type 2A, calpainopathy -- Case 41: Limb girdle muscular dystrophy type 2I, fukutin-related protein deficiency -- Case 42: Emery-Dreifuss muscular dystrophy -- Case 43: Facio-scapulo-humeral dystrophy -- Case 44: Miyoshi myopathy, dysferlinopathy, limb girdle muscular dystrophy type 2B -- Case 45: Distal myopathy with rimmed vacuoles, hereditary inclusion body myopathy -- Case 46: Oculopharyngeal muscular dystrophy -- Case 47: A woman with a family history of muscle weakness and severe cardiac complaints, desminopathy -- Case 48: Late-onset congenital myopathy caused by a mutation in the RYR1 gene, central core disease -- Case 49: Bethlem myopathy -- Case 50: Myotonic dystrophy type 1, Curschmann-Steinert disease -- Case 51: Myotonic dystrophy type 2, proximal myotonic myopathy -- Case 52: Becker myotonia, chloride channelopathy -- Case 53: Glycogen storage disease type 2, Pompe disease -- Case 54: Glycogen storage disease type 5, McArdle disease -- Case 55: Mitochondrial disease: progressive ophthalmoplegia -- Case 56: Myositis -- Case 57: Sporadic inclusion body myositis -- Case 58: Sarcoid myopathy -- Case 59: Hypothyroid myopathy. |
| Record Nr. | UNINA-9910820566003321 |
|
Wokke John H. J. <1952->
|
||
| Cambridge : , : Cambridge University Press, , 2013 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
| ||