Genetic Neuromuscular Disorders

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149,79 

A Case-Based Approach

ISBN: 3319564536
ISBN 13: 9783319564531
Autor: Angelini, Corrado
Verlag: Springer Verlag GmbH
Umfang: xi, 433 S., 5 s/w Illustr., 72 farbige Illustr., 433 p. 77 illus., 72 illus. in color.
Erscheinungsdatum: 17.10.2017
Auflage: 2/2018
Produktform: Kartoniert
Einband: Kartoniert

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.

Artikelnummer: 2107011 Kategorie:

Beschreibung

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 caseRevised and expanded to include case studies and literature reviews of additional genetic neuromuscular disorders

Autorenporträt

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.

Herstellerkennzeichnung:


Springer Verlag GmbH
Tiergartenstr. 17
69121 Heidelberg
DE

E-Mail: juergen.hartmann@springer.com

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