Genetic Neuromuscular 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.

Aceasta noua editie actualizata si extinsa a unei carti de succes descrie entitatile de diagnostic genetic ale tulburarilor neuromusculare. Sindroamele neuromusculare sunt prezentate clinic fie ca studiu de caz, fie ca o prezentare generala din literatura, insotite de text care prezinta defecte moleculare si diagnostic diferential. Aceasta colectie de tulburari neuromusculare prezinta fenotipurile clinice diferentiale legate de fiecare genotip si sunt reprezentative pentru intregul spectru a unei tulburari musculare genetice, ajutand clinicianul si medicul neuromuscular sa faca un diagnostic.