Genetic Neuromuscular Disorders

A Case-Based Approach

Authors: Angelini, Corrado

  • 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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eBook $59.99
price for USA (gross)
  • ISBN 978-3-319-07500-6
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $79.99
price for USA
  • ISBN 978-3-319-07499-3
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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.

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.

Table of contents (85 chapters)

  • Duchenne Muscular Dystrophy

    Angelini, Corrado

    Pages 3-7

  • Duchenne Muscular Dystrophy Carrier

    Angelini, Corrado

    Pages 9-12

  • Becker Muscular Dystrophy

    Angelini, Corrado

    Pages 13-17

  • Emery-Dreifuss Muscular Dystrophy Type 1

    Angelini, Corrado

    Pages 19-21

  • Emery-Dreifuss Muscular Dystrophy Type 2

    Angelini, Corrado

    Pages 23-26

Buy this book

eBook $59.99
price for USA (gross)
  • ISBN 978-3-319-07500-6
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $79.99
price for USA
  • ISBN 978-3-319-07499-3
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
Genetic Neuromuscular Disorders
Book Subtitle
A Case-Based Approach
Authors
Copyright
2014
Publisher
Springer International Publishing
Copyright Holder
Springer International Publishing Switzerland
eBook ISBN
978-3-319-07500-6
DOI
10.1007/978-3-319-07500-6
Softcover ISBN
978-3-319-07499-3
Edition Number
1
Number of Pages
XXI, 384
Number of Illustrations and Tables
5 b/w illustrations, 66 illustrations in colour
Topics