Genetic Neuromuscular Disorders

A Case-Based Approach

Authors: Angelini, Corrado

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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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eBook $109.00
price for USA in USD (gross)
  • ISBN 978-3-319-56454-8
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $149.99
price for USA in USD
  • ISBN 978-3-319-56453-1
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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.

About the authors

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.

Table of contents (47 chapters)

Table of contents (47 chapters)

Buy this book

eBook $109.00
price for USA in USD (gross)
  • ISBN 978-3-319-56454-8
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Softcover $149.99
price for USA in USD
  • ISBN 978-3-319-56453-1
  • 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
2018
Publisher
Springer International Publishing
Copyright Holder
Springer International Publishing Switzerland
eBook ISBN
978-3-319-56454-8
DOI
10.1007/978-3-319-56454-8
Softcover ISBN
978-3-319-56453-1
Edition Number
2
Number of Pages
XI, 433
Number of Illustrations
5 b/w illustrations, 72 illustrations in colour
Topics