Genetic Neuromuscular Disorders A Case-Based Approach

Genetic Neuromuscular Disorders A Case-Based Approach / by Corrado Angelini.

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...

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Bibliographic Details
Main Author: Angelini, Corrado (Author)
Corporate Author: SpringerLink (Online service)
Format: eBook
Language:English
Published: Cham : Springer International Publishing : Imprint: Springer, 2014.
Edition:1st ed. 2014.
Series:Springer eBook Collection.
Subjects:
Neurology .
Electronic resources (E-books)
Online Access:Click to view e-book
Holy Cross Note:Loaded electronically.
Electronic access restricted to members of the Holy Cross Community.
Table of 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.

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