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Genetic neuromuscular disorders = a ...

Angelini, Corrado.

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Genetic neuromuscular disorders = a case-based approach /

Record Type:	Electronic resources : Monograph/item
Title/Author:	Genetic neuromuscular disorders/ by Corrado Angelini.
Reminder of title:	a case-based approach /
Author:	Angelini, Corrado.
Published:	Cham :Springer International Publishing : : 2018.,
Description:	xi, 433 p. :ill., digital ;24 cm.
[NT 15003449]:	Muscular Dystrophies -- Congenital Myopathies -- Ion Channel Disorders -- Metabolic Myopathies -- Neurogenic Disorders.
Contained By:	Springer eBooks
Subject:	Neuromuscular diseases - Genetic aspects. -
Online resource:	http://dx.doi.org/10.1007/978-3-319-56454-8
ISBN:	9783319564548

Genetic neuromuscular disorders = a case-based approach /
Angelini, Corrado.

Genetic neuromuscular disordersa case-based approach /[electronic resource] :by Corrado Angelini. - 2nd ed. - Cham :Springer International Publishing :2018. - xi, 433 p. :ill., digital ;24 cm.

Muscular Dystrophies -- Congenital Myopathies -- Ion Channel Disorders -- Metabolic Myopathies -- Neurogenic Disorders.

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.

ISBN: 9783319564548

Standard No.: 10.1007/978-3-319-56454-8doiSubjects--Topical Terms:

3297750
Neuromuscular diseases
--Genetic aspects.

LC Class. No.: RC925.5

Dewey Class. No.: 616.744042

Genetic neuromuscular disorders = a case-based approach /
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245 1 0 $a Genetic neuromuscular disorders $h [electronic resource] : $b a case-based approach / $c by Corrado Angelini.
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505 0 $a Muscular Dystrophies -- Congenital Myopathies -- Ion Channel Disorders -- Metabolic Myopathies -- Neurogenic Disorders.
520 $a 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.
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