Genetic Neuromuscular Disorders

Autor:	Corrado Angelini
EAN:	9783319564548
eBook Format:	PDF
Sprache:	Englisch
Produktart:	eBook
Veröffentlichungsdatum:	05.10.2017
Untertitel:	A Case-Based Approach
Kategorie:	Medizin / Gesundheit
Schlagworte:	Channelopathy Genetic neuromuscular disorder Muscular Dystrophy Myopathy Myotonia neurogenic disorder neurological disorder

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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.

Corrado Angelini, M.D. works at the University of Padua Department of Neuroscience, Italy and also IRCCS S. Camillo Lido, Venice, Italy,

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.