© 2014

Genetic Neuromuscular Disorders

A Case-Based Approach


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

About this book


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.


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

Authors and affiliations

  1. 1.Dipartimento di NeuroscienzeUniversità di PadovaPadovaItaly

About the authors

Corrado Angelini, M.D. Università di Padova Dipartimento di Neuroscienze Padova, Italy and IRCCS S. Camillo Lido Venice, Italy Corrado Angelini has been trained at the Mayo Clinic where he worked on diagnostic features of metabolic disorders, contributed to the description of late-onset GSD II patients and discovered in man carnitine deficiency. He became Associate and Full Professor in Padova and contributed to the description of beta-sarcoglycanopathy, dysferlinopathy and Limb Girdle 1F.

Bibliographic information

  • Book Title Genetic Neuromuscular Disorders
  • Book Subtitle A Case-Based Approach
  • Authors Corrado Angelini
  • DOI
  • Copyright Information Springer International Publishing Switzerland 2014
  • Publisher Name Springer, Cham
  • eBook Packages Medicine Medicine (R0)
  • Softcover ISBN 978-3-319-07499-3
  • eBook ISBN 978-3-319-07500-6
  • Edition Number 1
  • Number of Pages XXI, 384
  • Number of Illustrations 5 b/w illustrations, 66 illustrations in colour
  • Topics Neurology
  • Buy this book on publisher's site
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