Genetic neuromuscular disorders : a case-based approach /

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Bibliographic Details
Author / Creator:Angelini, C. (Corrado), author.
Imprint:Cham : Springer, 2014.
Description:1 online resource (xxi, 384 pages) : illustrations (some color)
Language:English
Subject:
Format: E-Resource Book
URL for this record:http://pi.lib.uchicago.edu/1001/cat/bib/11087334
Hidden Bibliographic Details
ISBN:9783319075006
3319075004
3319074997
9783319074993
9783319074993
Notes:Includes bibliographical references and index.
Online resource; title from PDF title page (SpringerLink, viewed August 29, 2014).
Summary: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.
Other form:Printed edition: 9783319074993
Standard no.:10.1007/978-3-319-07500-6