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Provides representative case studies and accompanying text Includes clinical history, muscle/nerve biopsy changes, clinical or instrumental data, and pictures of patients and genetic results, when available, for each caseRevised and expanded to include case studies and literature reviews of additional genetic neuromuscular disorders
Autor: Angelini, Corrado
ISBN: 9783319564531
Auflage: 2
Sprache: Englisch
Seitenzahl: 433
Produktart: Kartoniert / Broschiert
Verlag: Springer International Publishing
Veröffentlicht: 17.10.2017
Untertitel: A Case-Based Approach
Schlagworte: Channelopathy Genetic neuromuscular disorder Muscular Dystrophy Myopathy Myotonia neurogenic disorder neurological disorder
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.