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Genetic Neuromuscular Disorders

A Case-Based Approach

  • Corrado Angelini

Table of contents

  1. Front Matter
    Pages i-xi
  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 13-16
    5. Corrado Angelini
      Pages 17-20
    6. Corrado Angelini
      Pages 21-24
    7. Corrado Angelini
      Pages 25-28
    8. Corrado Angelini
      Pages 29-31
    9. Corrado Angelini
      Pages 33-36
    10. Corrado Angelini
      Pages 37-40
    11. Corrado Angelini
      Pages 41-44
    12. Corrado Angelini
      Pages 45-50
    13. Corrado Angelini
      Pages 51-55
    14. Corrado Angelini
      Pages 57-60
    15. Corrado Angelini
      Pages 61-64
    16. Corrado Angelini
      Pages 65-69
    17. Corrado Angelini
      Pages 71-72
    18. Corrado Angelini
      Pages 73-74
    19. Corrado Angelini
      Pages 75-78
    20. Corrado Angelini
      Pages 79-81
    21. Corrado Angelini
      Pages 83-85
    22. Corrado Angelini
      Pages 87-89
    23. Corrado Angelini
      Pages 91-92
    24. Corrado Angelini
      Pages 97-98
    25. Corrado Angelini
      Pages 99-103
    26. Corrado Angelini
      Pages 105-106
    27. Corrado Angelini
      Pages 111-112
    28. Corrado Angelini
      Pages 117-118
    29. Corrado Angelini
      Pages 119-122
    30. Corrado Angelini
      Pages 123-127
    31. Corrado Angelini
      Pages 129-131
    32. Corrado Angelini
      Pages 133-134
    33. Corrado Angelini
      Pages 135-138
  3. Congenital Myopathies

    1. Front Matter
      Pages 139-139
    2. Corrado Angelini
      Pages 141-143
    3. Corrado Angelini
      Pages 149-150
    4. Corrado Angelini
      Pages 151-154
    5. Corrado Angelini
      Pages 155-158
    6. Corrado Angelini
      Pages 159-160
    7. Corrado Angelini
      Pages 161-165
    8. Corrado Angelini
      Pages 167-169
    9. Corrado Angelini
      Pages 171-173
    10. Corrado Angelini
      Pages 175-177
    11. Corrado Angelini
      Pages 179-180
    12. Corrado Angelini
      Pages 181-182

About this book

Introduction

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.

Keywords

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

Authors and affiliations

  • Corrado Angelini
    • 1
  1. 1.IRCCS Fondazione S.Camillo HospitalUniversità di Padova, Dipartimento di Neuroscienze PadovaVeniceItaly

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-319-56454-8
  • Copyright Information Springer International Publishing Switzerland 2018
  • Publisher Name Springer, Cham
  • eBook Packages Medicine
  • Print ISBN 978-3-319-56453-1
  • Online ISBN 978-3-319-56454-8
  • Buy this book on publisher's site