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 disordersfeatures 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 identifiedto suggesttreatment, when available or the main clinical exams useful in follow-up ofpatients.
Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.
Publisher: Springer International Publishing
Publication date: 9/30/2014
Edition description: 2014
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