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Genetic Neuromuscular Disorders: A Case-Based Approach

Corrado Angelini
Format
EBook; Book; Online
Published
Cham : Springer, 2014.
Language
English
ISBN
9783319075006, 3319075004, 9783319074993, 3319074997
Access Restriction
Electronic access is available for UVA students, faculty, staff, and affiliates only. IP address verification required.
Contents
  • 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.
Description
1 online resource (xxi, 384 pages) : illustrations (some color)
Notes
Includes bibliographical references and index.
Copyright Not EvaluatedCopyright Not Evaluated
Technical Details
  • Access in Virgo Classic
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    a| 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.
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