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Genetic Neuromuscular Disorders A Case-Based Approach /
This book describes the genetic diagnostic entities of neuromuscular disorders. Each neuromuscular syndrome is presented clinically as a case study, accompanied by text reviewing different molecular defects, DNA research and differential diagnosis. This collection of neuromuscular disorders featur...
| Clasificación: | Libro Electrónico |
|---|---|
| Autor principal: | |
| Autor Corporativo: | |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
Cham :
Springer International Publishing : Imprint: Springer,
2014.
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| Edición: | 1st ed. 2014. |
| Temas: | |
| Acceso en línea: | Texto Completo |
Tabla de Contenidos:
- Section 1 Muscular Dystrophies
- Duchenne Muscular Dystrophy
- Duchenne Muscular Dystrophy carrier
- Becker Muscular Dystrophy
- Emery-Dreifuss Muscular Dystrophy type 1
- Emery-Dreifuss Muscular Dystrophy type 2
- Limb Girdle Muscular Dystrophy type 1B
- Limb Girdle Muscular Dystrophy type 1C
- Limb Girdle Muscular Dystrophy type 1F
- Limb Girdle Muscular Dystrophy type 2A
- Limb Girdle Muscular Dystrophy type 2B
- Limb Girdle Muscular Dystrophy type 2C
- Limb Girdle Muscular Dystrophy type 2D
- Limb Girdle Muscular Dystrophy type 2E
- Limb Girdle Muscular Dystrophy type 2F
- Limb Girdle Muscular Dystrophy type 2I
- Limb Girdle Muscular Dystrophy type 2K
- Limb Girdle Muscular Dystrophy type 2N
- Congenital Muscular Dystrophy type 1A
- Congenital Muscular Dystrophy type 1C
- Congenital Muscular Dystrophy with rigid spine
- Congenital Muscular Dystrophy with integrin-alpha-7 deficiency
- Congenital Muscular Dystrophy, Ullrich type
- Bethlem myopathy
- Facio Scapulo Humeral Muscular Dystrophy type 1A
- Facio Scapulo Humeral Muscular Dystrophy type 2
- Section 2: Congenital Myopathies
- Congenital Multi-Mini-Core Myopathy
- Congenital Central-Core Myopathy with Malignant Hyperthermia
- Congenital Centronuclear Myopathy type 1
- Congenital Hyaline Body Myopathy
- Congenital Myotubular Myopathy
- Congenital Nemaline Myopathy type 2
- Congenital Fiber Type Disproportion type 1
- Congenital Fiber Type Disproportion
- Congenital Myofibrillar Myopathy type 1
- Congenital Myofibrillar Myopathy type 6
- Congenital Tubular Aggregate Myopathy
- Hereditary Inclusion Body Myopathy type 2
- Section 3: Ion Channel Disorders
- Myotonic Dystrophy type 1, Steinert Disease
- Congenital Myotonic Dystrophy
- Myotonic Dystrophy type 2, Proximal Myotonic Myopathy
- Congenital Myotonia, Thomsen Disease
- Hyperkalemic Periodic Paralysis
- Hypokalemic Periodic Paralysis type 1
- Slow-channel Congenital Myasthenic Syndrome
- Congenital Myasthenic Syndrome
- Brody Disease
- Section 4: Metabolic Myopathies
- Glycogenosis type 2, Pompe Disease
- Glycogenosis type 3, Cori-Forbes Disease
- Glycogenosis type 5, McArdle Disease
- Danon Disease
- Kearns-Sayre Syndrome
- Chronic Progressive External Ophthalmoplegia
- MELAS (Myopathy, Encephalopathy, Lactic Acidosis, Stroke-like)
- Leigh Syndrome due to COX Deficiency
- Mitochondrial Encephalopathy with COX Deficiency
- Coenzyme Q10 Deficiency
- Multiple Symmetrical Lipomatosis
- NARP (Neuropathy, Ataxia, Retinitis Pigmentosa)
- SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis)
- Systemic Primary Carnitine Deficiency
- Neutral Lipid Storage Disease with Ichthyosis
- Neutral Lipid Storage Disease with Myopathy
- Multiple Acyl-CoA Dehydrogenase Deficiency
- Carnitine-Palmitoyl-Transferase-II Deficiency
- Niemann-Pick Disease type C1
- Section 5: Neurogenic Disorders
- Spinal Muscular Atrophy type 1, Werdnig-Hoffmann Disease
- Spinal Muscular Atrophy type 2
- Spinal Muscular Atrophy type 3, Kugelberg-Welander Disease
- Spinal Bulbar Muscular Atrophy, Kennedy Disease
- Charcot-Marie-Tooth Disease type 1A
- Charcot-Marie-Tooth Disease type 1B
- Charcot-Marie-Tooth Disease neuronal type
- Charcot-Marie-Tooth Disease type 4A
- Charcot-Marie-Tooth Disease with pyramidal features
- Charcot-Marie-Tooth Disease type X1
- Distal Spinal Muscular Atrophy
- Hereditary Neuropathy with Pressure Palsies
- Friedreich Ataxia
- Spastic Ataxia, Charlevoix-Saguenay type
- Ataxia-Telangiectasia, Louis-Bar Syndrome
- Spastic Paraparesis type 4
- Spastic Paraparesis type 7
- Optic Atrophy Plus Syndrome
- Amyotrophic Lateral Sclerosis type 1
- Amyotrophic Lateral Sclerosis.