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.
Содержание
Muscular Dystrophies.- Congenital Myopathies.- Ion Channel Disorders.- Metabolic Myopathies.- Neurogenic Disorders.
Об авторе
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.
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