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008 171005s2018 sz | s |||| 0|eng d
020 _a9783319564548
024 7 _a10.1007/978-3-319-56454-8
_2doi
040 _aES-MaUEC
_bspa
_cES-MaUEC
_dES-MaUEC
050 4 _aRC925.5
100 1 _aAngelini, Corrado
_eautor
_4aut
_4http://id.loc.gov/vocabulary/relators/aut
_988611
245 1 0 _aGenetic Neuromuscular Disorders :
_bA Case-Based Approach
_cby Corrado Angelini
250 _a2nd edition 2018
264 1 _aCham
_bSpringer International Publishing
_c2018
300 _a1 recurso en línea (XI, 433 páginas)
_b77 ilustraciones, 72 ilustraciones a color
336 _atexto
_btxt
_2rdacontent
337 _aelectrónico
_bc
_2rdamedia
338 _arecurso electrónico
_bcr
_2rdacarrier
347 _aarchivo de texto
_bPDF
505 0 _aMuscular Dystrophies -- Congenital Myopathies -- Ion Channel Disorders -- Metabolic Myopathies -- Neurogenic Disorders.
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.
988 _aSpringer_Medicine_2018
650 7 _2embne
_9667116
_aEnfermedades neuromusculares
650 7 _2embne
_9145524
_aDistrofia muscular
650 7 _2embne
_9685897
_aDistrofia miotónica
776 0 8 _iPrinted edition:
_z9783319564531
776 0 8 _iPrinted edition:
_z9783319564555
856 4 0 _uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-319-56454-8
_zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942 _2lcc
_cLE
998 _b01/2023
_dz
_esc
_zSI