Genetic Neuromuscular Disorders

Zusatztext

<p>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.</p><p></p><p>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.</p><p></p><p><i>Genetic Neuromuscular Disorders: A Case-Based Approach</i> is aimed at neuromuscular physicians and neurology residents.</p><p></p>

Autorenportrait

Corrado Angelini, M.D. works at the University of Padua Department of Neuroscience, Italy and also IRCCS S. Camillo Lido, Venice, Italy,<div>Corrado Angelini trained at the Mayo Clinic where he worked on diagnostic features of metabolic disorders, contributed to the description of late-onset GSD II patients and discovered carnitine deficiency in man. He became Associate and Full Professor in Padova and contributed to the description of beta-sarcoglycanopathy, dysferlinopathy and Limb Girdle 1F.</div>

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