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Titlebook: Genetic Neuromuscular Disorders; A Case-Based Approac Corrado Angelini Book 2018Latest edition Springer International Publishing Switzerlan

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發(fā)表于 2025-3-21 18:32:10 | 只看該作者 |倒序?yàn)g覽 |閱讀模式
書(shū)目名稱(chēng)Genetic Neuromuscular Disorders
副標(biāo)題A Case-Based Approac
編輯Corrado Angelini
視頻videohttp://file.papertrans.cn/383/382562/382562.mp4
概述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 ava
圖書(shū)封面Titlebook: Genetic Neuromuscular Disorders; A Case-Based Approac Corrado Angelini Book 2018Latest edition Springer International Publishing Switzerlan
描述.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..
出版日期Book 2018Latest edition
關(guān)鍵詞Channelopathy; Genetic neuromuscular disorder; Muscular Dystrophy; Myopathy; Myotonia; neurogenic disorde
版次2
doihttps://doi.org/10.1007/978-3-319-56454-8
isbn_softcover978-3-319-56453-1
isbn_ebook978-3-319-56454-8
copyrightSpringer International Publishing Switzerland 2018
The information of publication is updating

書(shū)目名稱(chēng)Genetic Neuromuscular Disorders影響因子(影響力)




書(shū)目名稱(chēng)Genetic Neuromuscular Disorders影響因子(影響力)學(xué)科排名




書(shū)目名稱(chēng)Genetic Neuromuscular Disorders網(wǎng)絡(luò)公開(kāi)度




書(shū)目名稱(chēng)Genetic Neuromuscular Disorders網(wǎng)絡(luò)公開(kāi)度學(xué)科排名




書(shū)目名稱(chēng)Genetic Neuromuscular Disorders被引頻次




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書(shū)目名稱(chēng)Genetic Neuromuscular Disorders讀者反饋




書(shū)目名稱(chēng)Genetic Neuromuscular Disorders讀者反饋學(xué)科排名




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沙發(fā)
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板凳
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Limb-Girdle Muscular Dystrophy Type 1Ccases have been identified. The dominant inheritance implies that only one allele is mutated, and the reduction of the protein product is the consequent of a dominant-negative effect of gene mutations.
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發(fā)表于 2025-3-22 05:12:17 | 只看該作者
Limb-Girdle Muscular Dystrophy Type 2A age at onset of muscle weakness ranges between 2 and 40?years (in average 15?years). The first clinical symptoms are usually difficulty in running, the tendency to walk on tiptoes, and scapular winging caused by weakness of scapular girdle muscles. Weakness and wasting of the hip adductors/extensor
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發(fā)表于 2025-3-22 12:12:03 | 只看該作者
Limb-Girdle Muscular Dystrophy Type 2Fnging, and slight decrease in proximal muscle strength and became wheelchair dependent at age 14; another girl had frequent falls, toe walking, large calves, and difficulty with stairs at age 22?months. Few other cases have been reported, but all the LGMD2F patients reported so far show a Duchenne-l
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發(fā)表于 2025-3-22 16:26:12 | 只看該作者
Limb-Girdle Muscular Dystrophy Type 2In several patients. Muscle involvement in LGMD2I includes proximal distribution of weakness in the limbs, with the hips more affected than the shoulders. Calf muscle hypertrophy is common. FKRP mutations have also been reported in a severe form of congenital muscular dystrophy (MDC1C) and in congeni
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發(fā)表于 2025-3-22 23:49:03 | 只看該作者
,Sieger und Besiegte – Brexit und kein Ende,findings (CK is 100–200 times the normal), and a complete absence of the dystrophin protein in the muscle. Genetic analysis shows a frameshift deletion/duplication or null mutations in the DMD gene, offering crucial data for prenatal diagnosis.
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