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Genetic Neuromuscular Disorders

A Case-Based Approach

  • Book
  • © 2014

Overview

Authors:
  1. Corrado Angelini

    1. Dipartimento di Neuroscienze, Università di Padova, Padova, Italy

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  • Clinically oriented book on genetic neuromuscular disorders

  • Collection of representative cases and accompanying text

  • Each case includes clinical history, a biopsy report, clinical or instrumental data and a picture and genetic results when applicable

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Table of contents (85 chapters)

  1. Front Matter

    Pages i-xxi
    Download chapter PDF

  2. Muscular Dystrophies

    1. Front Matter

      Pages 1-1
      Download chapter PDF

    2. Duchenne Muscular Dystrophy

      • Corrado Angelini
      Pages 3-7

    3. Duchenne Muscular Dystrophy Carrier

      • Corrado Angelini
      Pages 9-12

    4. Becker Muscular Dystrophy

      • Corrado Angelini
      Pages 13-17

    5. Emery-Dreifuss Muscular Dystrophy Type 1

      • Corrado Angelini
      Pages 19-21

    6. Emery-Dreifuss Muscular Dystrophy Type 2

      • Corrado Angelini
      Pages 23-26

    7. Limb-Girdle Muscular Dystrophy Type 1B

      • Corrado Angelini
      Pages 27-30

    8. Limb-Girdle Muscular Dystrophy Type 1C

      • Corrado Angelini
      Pages 31-34

    9. Limb-Girdle Muscular Dystrophy Type 1F

      • Corrado Angelini
      Pages 35-38

    10. Limb-Girdle Muscular Dystrophy Type 2A

      • Corrado Angelini
      Pages 39-45

    11. Limb-Girdle Muscular Dystrophy Type 2B

      • Corrado Angelini
      Pages 47-52

    12. Limb-Girdle Muscular Dystrophy Type 2C

      • Corrado Angelini
      Pages 53-56

    13. Limb-Girdle Muscular Dystrophy Type 2D

      • Corrado Angelini
      Pages 57-60

    14. Limb-Girdle Muscular Dystrophy Type 2E

      • Corrado Angelini
      Pages 61-65

    15. Limb-Girdle Muscular Dystrophy Type 2F

      • Corrado Angelini
      Pages 67-69

    16. Limb-Girdle Muscular Dystrophy Type 2I

      • Corrado Angelini
      Pages 71-74

    17. Limb-Girdle Muscular Dystrophy Type 2K

      • Corrado Angelini
      Pages 75-77

    18. Limb-Girdle Muscular Dystrophy Type 2N

      • Corrado Angelini
      Pages 79-81

    19. Congenital Muscular Dystrophy Type 1A

      • Corrado Angelini
      Pages 83-87
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Keywords

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.

Authors and Affiliations

  • Dipartimento di Neuroscienze, Università di Padova, Padova, Italy

    Corrado Angelini

About the author

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: https://doi.org/10.1007/978-3-319-07500-6

  • Publisher: Springer Cham

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer International Publishing Switzerland 2014

  • eBook ISBN: 978-3-319-07500-6Published: 22 August 2014

  • Edition Number: 1

  • Number of Pages: XXI, 384

  • Number of Illustrations: 5 b/w illustrations, 66 illustrations in colour

  • Topics: Neurology

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