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Genetic Neuromuscular Disorders 2nd ed
A Case-Based Approach
Angelini
Editore
Springer
Anno
2018
Pagine
433
ISBN
9783319564531
130,00 €

DA SCONTARE

I prezzi indicati possono subire variazioni poiché soggetti all'oscillazione dei cambi delle valute e/o agli aggiornamenti effettuati dagli Editori.
  • Provides representative case studies and accompanying text
  • Includes clinical history, muscle/nerve biopsy changes, clinical or instrumental data, and pictures of patients and genetic results, when available, for each case
  • Revised and expanded to include case studies and literature reviews of additional genetic neuromuscular disorders

This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis.

This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. 

 

Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.

Table of contents (107 chapters)

 
  • Duchenne Muscular Dystrophy

    Angelini, Corrado

    Pages 3-7

  • Duchenne Muscular Dystrophy Carrier

    Angelini, Corrado

    Pages 9-12

  • Becker Muscular Dystrophy

    Angelini, Corrado

    Pages 13-16

  • Emery-Dreifuss Muscular Dystrophy Type 1

    Angelini, Corrado

    Pages 17-20

  • Emery-Dreifuss Muscular Dystrophy Type 2

    Angelini, Corrado

    Pages 21-24

  • Emery-Dreifuss Muscular Dystrophy Type 4

    Angelini, Corrado

    Pages 25-28

  • Limb-Girdle Muscular Dystrophy Type 1A

    Angelini, Corrado

    Pages 29-31

  • Limb-Girdle Muscular Dystrophy Type 1B

    Angelini, Corrado

    Pages 33-36

  • Limb-Girdle Muscular Dystrophy Type 1C

    Angelini, Corrado

    Pages 37-40

  • Limb-Girdle Muscular Dystrophy Type 1F

    Angelini, Corrado

    Pages 41-44

  • Limb-Girdle Muscular Dystrophy Type 2A

    Angelini, Corrado

    Pages 45-50

  • Limb-Girdle Muscular Dystrophy Type 2B

    Angelini, Corrado

    Pages 51-55

  • Limb-Girdle Muscular Dystrophy Type 2C

    Angelini, Corrado

    Pages 57-60

  • Limb-Girdle Muscular Dystrophy Type 2D

    Angelini, Corrado

    Pages 61-64

  • Limb-Girdle Muscular Dystrophy Type 2E

    Angelini, Corrado

    Pages 65-69

  • Limb-Girdle Muscular Dystrophy Type 2F

    Angelini, Corrado

    Pages 71-72

  • Limb-Girdle Muscular Dystrophy Type 2H

    Angelini, Corrado

    Pages 73-74

  • Limb-Girdle Muscular Dystrophy Type 2I

    Angelini, Corrado

    Pages 75-78

  • Limb-Girdle Muscular Dystrophy Type 2J

    Angelini, Corrado

    Pages 79-81

  • Limb-Girdle Muscular Dystrophy Type 2K

    Angelini, Corrado

    Pages 83-85

  • Limb-Girdle Muscular Dystrophy Type 2L

    Angelini, Corrado

    Pages 87-89

  • Limb-Girdle Muscular Dystrophy Type 2N

    Angelini, Corrado

    Pages 91-92

  • Limb-Girdle Muscular Dystrophy with Epidermolysis Bullosa Simplex

    Angelini, Corrado

    Pages 93-95

  • Limb-Girdle Muscular Dystrophy Type 2T

    Angelini, Corrado

    Pages 97-98

  • Congenital Muscular Dystrophy Type 1A

    Angelini, Corrado

    Pages 99-103

  • Congenital Muscular Dystrophy Type 1C

    Angelini, Corrado

    Pages 105-106

  • Fukuyama Congenital Muscular Dystrophy: Walker-Warburg Syndrome

    Angelini, Corrado

    Pages 107-110

  • Congenital Muscular Dystrophy with Rigid Spine

    Angelini, Corrado

    Pages 111-112

  • Congenital Muscular Dystrophy with Integrin-Alpha-7 Deficiency

    Angelini, Corrado

    Pages 113-115

  • Congenital Muscular Dystrophy: Ullrich Disease

    Angelini, Corrado

    Pages 117-118

  • Bethlem Myopathy

    Angelini, Corrado

    Pages 119-122

  • Facioscapulohumeral Muscular Dystrophy Type 1A

    Angelini, Corrado

    Pages 123-127

  • Facioscapulohumeral Muscular Dystrophy Type 2

    Angelini, Corrado

    Pages 129-131

  • Oculopharyngeal Muscular Dystrophy

    Angelini, Corrado

    Pages 133-134

  • Scapuloperoneal Myopathy

    Angelini, Corrado

    Pages 135-138

  • Congenital Multiminicore Myopathy

    Angelini, Corrado

    Pages 141-143

  • Congenital Central Core Myopathy with Malignant Hyperthermia

    Angelini, Corrado

    Pages 145-147

  • Congenital Centronuclear Myopathy Type 1

    Angelini, Corrado

    Pages 149-150

  • Congenital Hyaline Body Myopathy

    Angelini, Corrado

    Pages 151-154

  • Congenital Myotubular Myopathy

    Angelini, Corrado

    Pages 155-158

  • Congenital Nemaline Myopathy Type 1

    Angelini, Corrado

    Pages 159-160

  • Congenital Nemaline Myopathy Type 2

    Angelini, Corrado

    Pages 161-165

  • Congenital Fiber-Type Disproportion Type 1

    Angelini, Corrado

    Pages 167-169

  • Congenital Fiber-Type Disproportion

    Angelini, Corrado

    Pages 171-173

  • Congenital Myofibrillar Myopathy Type 1

    Angelini, Corrado

    Pages 175-177

  • Congenital Myofibrillar Myopathy Type 2

    Angelini, Corrado

    Pages 179-180

  • Congenital Myofibrillar Myopathy Type 5

    Angelini, Corrado

    Pages 181-182

  • Congenital Myofibrillar Myopathy Type 6

    Angelini, Corrado

    Pages 183-185

  • Congenital Tubular Aggregate Myopathy

    Angelini, Corrado

    Pages 187-189

  • Vacuolar Myopathy with Calsequestrin Aggregates

    Angelini, Corrado

    Pages 191-193

  • Hereditary Inclusion Body Myopathy Type 2

    Angelini, Corrado

    Pages 195-196

  • Myotonic Dystrophy Type 1, Steinert Disease

    Angelini, Corrado

    Pages 199-203

  • Congenital Myotonic Dystrophy

    Angelini, Corrado

    Pages 205-208

  • Myotonic Dystrophy Type 2, Proximal Myotonic Myopathy

    Angelini, Corrado

    Pages 209-212

  • Congenital Myotonia, Thomsen Disease

    Angelini, Corrado

    Pages 213-216

  • Hyperkalemic Periodic Paralysis

    Angelini, Corrado

    Pages 217-219

  • Hypokalemic Periodic Paralysis Type 1

    Angelini, Corrado

    Pages 221-222

  • Slow-Channel Congenital Myasthenic Syndrome

    Angelini, Corrado

    Pages 223-226

  • Congenital Myasthenic Syndrome Type 9

    Angelini, Corrado

    Pages 227-228

  • Congenital Myasthenic Syndrome

    Angelini, Corrado

    Pages 229-231

  • Congenital Myasthenic Syndrome Type 11

    Angelini, Corrado

    Pages 233-234

  • Brody Disease

    Angelini, Corrado

    Pages 235-238

  • Glycogenosis Type 2, Pompe Disease

    Angelini, Corrado

    Pages 241-247

  • Glycogenosis Type 3, Cori-Forbes Disease

    Angelini, Corrado

    Pages 249-252

  • Glycogenosis Type 4, Andersen Disease

    Angelini, Corrado

    Pages 253-254

  • Glycogenosis Type 5, McArdle Disease

    Angelini, Corrado

    Pages 255-257

  • Glycogenosis Type 7, Tarui Disease

    Angelini, Corrado

    Pages 259-260

  • Danon Disease

    Angelini, Corrado

    Pages 261-264

  • Polyglucosan Body Myopathy Type 2

    Angelini, Corrado

    Pages 265-268

  • Kearns-Sayre Syndrome

    Angelini, Corrado

    Pages 269-272

  • Chronic Progressive External Ophthalmoplegia

    Angelini, Corrado

    Pages 273-276

  • MELAS (Myopathy, Encephalopathy, Lactic Acidosis, Stroke-Like Episodes)

    Angelini, Corrado

    Pages 277-282

  • Leigh Syndrome due to COX Deficiency

    Angelini, Corrado

    Pages 283-285

  • Mitochondrial Encephalomyopathy with COX Deficiency

    Angelini, Corrado

    Pages 287-290

  • Mitochondrial Complex I Deficiency due to ACAD9 Deficiency

    Angelini, Corrado

    Pages 291-292

  • Coenzyme Q10 Deficiency

    Angelini, Corrado

    Pages 293-296

  • Multiple Symmetric Lipomatosis

    Angelini, Corrado

    Pages 297-300

  • NARP (Neuropathy, Ataxia, Retinitis Pigmentosa)

    Angelini, Corrado

    Pages 301-303

  • SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis)

    Angelini, Corrado

    Pages 305-306

  • Systemic Primary Carnitine Deficiency

    Angelini, Corrado

    Pages 307-311

  • Neutral Lipid Storage Disease with Ichthyosis, Chanarin-Dorfman Syndrome

    Angelini, Corrado

    Pages 313-317

  • Neutral Lipid Storage Disease with Myopathy

    Angelini, Corrado

    Pages 319-323

  • Multiple Acyl-CoA Dehydrogenase Deficiency

    Angelini, Corrado

    Pages 325-330

  • Carnitine Palmitoyltransferase II Deficiency

    Angelini, Corrado

    Pages 331-334

  • Niemann-Pick Disease Type C1

    Angelini, Corrado

    Pages 335-337

  • Spinal Muscular Atrophy Type 1, Werdnig-Hoffmann Disease

    Angelini, Corrado

    Pages 341-343

  • Spinal Muscular Atrophy Type 2, Werdnig-Hoffmann Disease

    Angelini, Corrado

    Pages 345-347

  • Spinal Muscular Atrophy Type 3, Kugelberg-Welander Disease

    Angelini, Corrado

    Pages 349-351

  • Spinal Bulbar Muscular Atrophy, Kennedy Disease

    Angelini, Corrado

    Pages 353-356

  • Charcot-Marie-Tooth Disease, Type 1A

    Angelini, Corrado

    Pages 357-361

  • Charcot-Marie-Tooth Disease, Type 1B

    Angelini, Corrado

    Pages 363-365

  • Charcot-Marie-Tooth Disease, Neuronal Type

    Angelini, Corrado

    Pages 367-370

  • Charcot-Marie-Tooth Disease, Type 4A

    Angelini, Corrado

    Pages 371-373

  • Charcot-Marie-Tooth Neuropathy with Pyramidal Features

    Angelini, Corrado

    Pages 375-378

  • Charcot-Marie-Tooth Disease, Type X1

    Angelini, Corrado

    Pages 379-381

  • Distal Spinal Muscular Atrophy

    Angelini, Corrado

    Pages 383-384

  • Hereditary Neuropathy with Pressure Palsies

    Angelini, Corrado

    Pages 385-387

  • Distal Hereditary Motor Neuropathy Type 2C

    Angelini, Corrado

    Pages 389-390

  • Friedreich’s Ataxia

    Angelini, Corrado

    Pages 391-394

  • Spastic Ataxia, Charlevoix-Saguenay Type

    Angelini, Corrado

    Pages 395-397

  • Ataxia-Telangiectasia, Louis-Bar Syndrome

    Angelini, Corrado

    Pages 399-401

  • Spastic Paraparesis Type 4

    Angelini, Corrado

    Pages 403-405

  • Spastic Paraparesis Type 7

    Angelini, Corrado

    Pages 407-410

  • Optic Atrophy Plus Syndrome

    Angelini, Corrado

    Pages 411-413

  • Amyotrophic Lateral Sclerosis Type 1

    Angelini, Corrado

    Pages 415-417

  • Amyotrophic Lateral Sclerosis Type 2, Juvenile

    Angelini, Corrado

    Pages 419-421

  • Amyotrophic Lateral Sclerosis

    Angelini, Corrado

    Pages 423-424

 

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