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Genetic Neuromuscular Disorders : A Case-Based Approach / by Corrado Angelini

By: Angelini, Corrado, autor
Material type: materialTypeLabelE-bookPublisher: Cham : Springer International Publishing, 2018Edition: 2nd edition 2018.Description: 1 recurso en línea (XI, 433 páginas) : 77 ilustraciones, 72 ilustraciones a color.ISBN: 9783319564548.Subject: Enfermedades neuromusculares | Distrofia muscular | Distrofia miotónicaOnline resources: Acceso a este recurso digital (usuarios Universidad Europea de Madrid)Digital Resources
Contents:
Muscular Dystrophies -- Congenital Myopathies -- Ion Channel Disorders -- Metabolic Myopathies -- Neurogenic Disorders.
Summary: 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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Holdings
Item type Current library Collection Call number Status Date due Barcode Item holds
LIBRO-E NO PRÉSTAMO LIBRO-E NO PRÉSTAMO Madrid Digital Acceso Electrónico (UEM) Ciencias de la Salud RC925.5 2018 EB (Browse shelf(Opens below)) Acceso electrónico eBook.02112054
Total holds: 0

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.

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