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Genetic neuromuscular disordersa cas...
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Angelini, Corrado.
Genetic neuromuscular disordersa case-based approach /
紀錄類型:
書目-電子資源 : Monograph/item
正題名/作者:
Genetic neuromuscular disordersby Corrado Angelini.
其他題名:
a case-based approach /
作者:
Angelini, Corrado.
出版者:
Cham :Springer International Publishing :2018.
面頁冊數:
xi, 433 p. :ill., digital ;24 cm.
Contained By:
Springer eBooks
標題:
Neuromuscular diseasesGenetic aspects.
電子資源:
http://dx.doi.org/10.1007/978-3-319-56454-8
ISBN:
9783319564548$q(electronic bk.)
Genetic neuromuscular disordersa case-based approach /
Angelini, Corrado.
Genetic neuromuscular disorders
a case-based approach /[electronic resource] :by Corrado Angelini. - 2nd ed. - Cham :Springer International Publishing :2018. - xi, 433 p. :ill., digital ;24 cm.
Muscular Dystrophies -- Congenital Myopathies -- Ion Channel Disorders -- Metabolic Myopathies -- Neurogenic Disorders.
This updated and expanded new edition of a successful book describes genetic diagnostic entities of neuromuscular disorders. Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis. This collection of neuromuscular disorders features the differential clinical phenotypes related to each genotype and are representative of the whole spectrum of a genetic muscle disorder, helping the clinician and neuromuscular physician to make a diagnosis. Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients. Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.
ISBN: 9783319564548$q(electronic bk.)
Standard No.: 10.1007/978-3-319-56454-8doiSubjects--Topical Terms:
801510
Neuromuscular diseases
--Genetic aspects.
LC Class. No.: RC925.5
Dewey Class. No.: 616.744042
Genetic neuromuscular disordersa case-based approach /
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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.
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