000823994 000__ 02747cam\a2200493Mi\4500 000823994 001__ 823994 000823994 005__ 20230306144059.0 000823994 006__ m\\\\\o\\d\\\\\\\\ 000823994 007__ cr\un\nnnunnun 000823994 008__ 171014s2018\\\\sz\\\\\\o\\\\\001\0\eng\d 000823994 019__ $$a1013508807$$a1016320691$$a1021278299$$a1023048370$$a1026996240$$a1032285324 000823994 020__ $$a9783319564548$$q(electronic book) 000823994 020__ $$a3319564544$$q(electronic book) 000823994 020__ $$a3319564536 000823994 020__ $$a9783319564531 000823994 020__ $$z9783319564531 000823994 0247_ $$a10.1007/978-3-319-56454-8$$2doi 000823994 035__ $$aSP(OCoLC)on1006425799 000823994 035__ $$aSP(OCoLC)1006425799$$z(OCoLC)1013508807$$z(OCoLC)1016320691$$z(OCoLC)1021278299$$z(OCoLC)1023048370$$z(OCoLC)1026996240$$z(OCoLC)1032285324 000823994 040__ $$aEBLCP$$beng$$epn$$cEBLCP$$dGW5XE$$dOCLCF$$dUAB$$dOCLCQ$$dAZU$$dCOO$$dOCLCQ$$dU3W$$dCAUOI$$dOCLCQ 000823994 049__ $$aISEA 000823994 050_4 $$aRC925.5 000823994 050_4 $$aR1 000823994 08204 $$a616.7/44042$$223 000823994 08204 $$a616.8 000823994 1001_ $$aAngelini, C.$$q(Corrado) 000823994 24510 $$aGenetic neuromuscular disorders :$$ba case-based approach /$$cCorrado Angelini. 000823994 250__ $$a2nd ed. 000823994 260__ $$aCham :$$bSpringer,$$c©2018. 000823994 300__ $$a1 online resource (392 pages) 000823994 336__ $$atext$$btxt$$2rdacontent 000823994 337__ $$acomputer$$bc$$2rdamedia 000823994 338__ $$aonline resource$$bcr$$2rdacarrier 000823994 347__ $$atext file$$bPDF$$2rda 000823994 500__ $$aIncludes index. 000823994 506__ $$aAccess limited to authorized users. 000823994 520__ $$aThis 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. 000823994 588__ $$aDescription based on print version record. 000823994 650_0 $$aNeuromuscular diseases$$xGenetic aspects. 000823994 77608 $$iPrint version:$$aAngelini, Corrado.$$tGenetic Neuromuscular Disorders : A Case-Based Approach.$$dCham : Springer International Publishing, ©2017$$z9783319564531 000823994 852__ $$bebk 000823994 85640 $$3SpringerLink$$uhttps://univsouthin.idm.oclc.org/login?url=http://link.springer.com/10.1007/978-3-319-56454-8$$zOnline Access$$91397441.1 000823994 909CO $$ooai:library.usi.edu:823994$$pGLOBAL_SET 000823994 980__ $$aEBOOK 000823994 980__ $$aBIB 000823994 982__ $$aEbook 000823994 983__ $$aOnline 000823994 994__ $$a92$$bISE