Genetic neuromuscular disorders: A case-based approach

Corrado Angelini

Research output: Book/ReportBook

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
PublisherSpringer International Publishing
Number of pages384
ISBN (Print)9783319075006, 3319074997, 9783319074993
DOIs
Publication statusPublished - May 1 2014

Fingerprint

Inborn Genetic Diseases
Physicians
Muscular Diseases
Neurology
Differential Diagnosis
Genotype
Phenotype
DNA
Research
Therapeutics

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Genetic neuromuscular disorders : A case-based approach. / Angelini, Corrado.

Springer International Publishing, 2014. 384 p.

Research output: Book/ReportBook

Angelini, Corrado. / Genetic neuromuscular disorders : A case-based approach. Springer International Publishing, 2014. 384 p.
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