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Genetic Neuromuscular Disorders

A Case-Based Approach

  • Book
  • © 2018

Overview

Authors:
  1. Corrado Angelini

    1. IRCCS Fondazione S.Camillo Hospital, Università di Padova, Dipartimento di Neuroscienze Padova, Venice, Italy

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  • 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

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Table of contents (107 chapters)

  1. Front Matter

    Pages i-xi
    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 13-16

    5. Emery-Dreifuss Muscular Dystrophy Type 1

      • Corrado Angelini
      Pages 17-20

    6. Emery-Dreifuss Muscular Dystrophy Type 2

      • Corrado Angelini
      Pages 21-24

    7. Emery-Dreifuss Muscular Dystrophy Type 4

      • Corrado Angelini
      Pages 25-28

    8. Limb-Girdle Muscular Dystrophy Type 1A

      • Corrado Angelini
      Pages 29-31

    9. Limb-Girdle Muscular Dystrophy Type 1B

      • Corrado Angelini
      Pages 33-36

    10. Limb-Girdle Muscular Dystrophy Type 1C

      • Corrado Angelini
      Pages 37-40

    11. Limb-Girdle Muscular Dystrophy Type 1F

      • Corrado Angelini
      Pages 41-44

    12. Limb-Girdle Muscular Dystrophy Type 2A

      • Corrado Angelini
      Pages 45-50

    13. Limb-Girdle Muscular Dystrophy Type 2B

      • Corrado Angelini
      Pages 51-55

    14. Limb-Girdle Muscular Dystrophy Type 2C

      • Corrado Angelini
      Pages 57-60

    15. Limb-Girdle Muscular Dystrophy Type 2D

      • Corrado Angelini
      Pages 61-64

    16. Limb-Girdle Muscular Dystrophy Type 2E

      • Corrado Angelini
      Pages 65-69

    17. Limb-Girdle Muscular Dystrophy Type 2F

      • Corrado Angelini
      Pages 71-72

    18. Limb-Girdle Muscular Dystrophy Type 2H

      • Corrado Angelini
      Pages 73-74

    19. Limb-Girdle Muscular Dystrophy Type 2I

      • Corrado Angelini
      Pages 75-78
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Keywords

About this book

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.

Authors and Affiliations

  • IRCCS Fondazione S.Camillo Hospital, Università di Padova, Dipartimento di Neuroscienze Padova, Venice, Italy

    Corrado Angelini

About the author

Corrado Angelini, M.D. works at the University of Padua Department of Neuroscience, Italy and also IRCCS S. Camillo Lido, Venice, Italy,Corrado Angelini 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 carnitine deficiency in man. 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/10.1007/978-3-319-56454-8

  • Publisher: Springer Cham

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer International Publishing Switzerland 2018

  • Softcover ISBN: 978-3-319-56453-1Published: 17 October 2017

  • eBook ISBN: 978-3-319-56454-8Published: 05 October 2017

  • Edition Number: 2

  • Number of Pages: XI, 433

  • Number of Illustrations: 5 b/w illustrations, 72 illustrations in colour

  • Topics: Neurology

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