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Genetic Neuromuscular Disorders

A Case-Based Approach

  • Corrado¬†Angelini

Table of contents

  1. Front Matter
    Pages i-xxi
  2. Muscular Dystrophies

    1. Front Matter
      Pages 1-1
    2. Corrado Angelini
      Pages 3-7
    3. Corrado Angelini
      Pages 9-12
    4. Corrado Angelini
      Pages 13-17
    5. Corrado Angelini
      Pages 19-21
    6. Corrado Angelini
      Pages 23-26
    7. Corrado Angelini
      Pages 27-30
    8. Corrado Angelini
      Pages 31-34
    9. Corrado Angelini
      Pages 35-38
    10. Corrado Angelini
      Pages 39-45
    11. Corrado Angelini
      Pages 47-52
    12. Corrado Angelini
      Pages 53-56
    13. Corrado Angelini
      Pages 57-60
    14. Corrado Angelini
      Pages 61-65
    15. Corrado Angelini
      Pages 67-69
    16. Corrado Angelini
      Pages 71-74
    17. Corrado Angelini
      Pages 75-77
    18. Corrado Angelini
      Pages 79-81
    19. Corrado Angelini
      Pages 83-87
    20. Corrado Angelini
      Pages 89-91
    21. Corrado Angelini
      Pages 93-94
    22. Corrado Angelini
      Pages 99-100
    23. Corrado Angelini
      Pages 101-104
    24. Corrado Angelini
      Pages 105-109
    25. Corrado Angelini
      Pages 111-113
  3. Congenital Myopathies

    1. Front Matter
      Pages 115-115
    2. Corrado Angelini
      Pages 117-119
    3. Corrado Angelini
      Pages 125-127
    4. Corrado Angelini
      Pages 129-132
    5. Corrado Angelini
      Pages 133-136
    6. Corrado Angelini
      Pages 137-140
    7. Corrado Angelini
      Pages 141-143
    8. Corrado Angelini
      Pages 145-147
    9. Corrado Angelini
      Pages 149-151
    10. Corrado Angelini
      Pages 153-155
    11. Corrado Angelini
      Pages 157-159
    12. Corrado Angelini
      Pages 161-163
  4. Ion Channel Disorders

    1. Front Matter
      Pages 165-165
    2. Corrado Angelini
      Pages 167-171
    3. Corrado Angelini
      Pages 173-175
    4. Corrado Angelini
      Pages 181-184
    5. Corrado Angelini
      Pages 185-187
    6. Corrado Angelini
      Pages 189-190
    7. Corrado Angelini
      Pages 191-194
    8. Corrado Angelini
      Pages 195-197
    9. Corrado Angelini
      Pages 199-202

About this book

Introduction

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 features the different 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.

Keywords

Channelopathy Genetic neuromuscular disorder Muscular Dystrophy Myopathy Myotonia neurogenic disorder neurological disorder

Authors and affiliations

  • Corrado¬†Angelini
    • 1
  1. 1.Dipartimento di NeuroscienzeUniversità di PadovaPadovaItaly

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-319-07500-6
  • Copyright Information Springer International Publishing Switzerland 2014
  • Publisher Name Springer, Cham
  • eBook Packages Medicine
  • Print ISBN 978-3-319-07499-3
  • Online ISBN 978-3-319-07500-6
  • Buy this book on publisher's site