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- DescriptionThis book describes the genetic diagstic entities of neuromuscular disorders. Each neuromuscular syndrome is presented clinically as a case study, accompanied by text reviewing different molecular defects, DNA research and differential diagsis. This collection of neuromuscular disorders features the different clinical phetypes related to each getype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagsis. 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.
- Author BiographyCorrado Angelini, M.D. Universita di Padova Dipartimento di Neuroscienze Padova, Italy and IRCCS S. Camillo Lido Venice, Italy Corrado Angelini has been 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 in man carnitine deficiency. He became Associate and Full Professor in Padova and contributed to the description of beta-sarcoglycanopathy, dysferlinopathy and Limb Girdle 1F.
- Author(s)Corrado Angelini
- PublisherSpringer International Publishing AG
- Date of Publication23/08/2014
- SubjectClinical Medicine: Professional
- Place of PublicationCham
- Country of PublicationSwitzerland
- ImprintSpringer International Publishing AG
- Content Note5 black & white illustrations, 66 colour illustrations, 84 black & white tables, biography
- Weight724 g
- Width155 mm
- Height235 mm
- Spine21 mm
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