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

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书目名称Genetic Neuromuscular Disorders影响因子(影响力)




书目名称Genetic Neuromuscular Disorders影响因子(影响力)学科排名




书目名称Genetic Neuromuscular Disorders网络公开度




书目名称Genetic Neuromuscular Disorders网络公开度学科排名




书目名称Genetic Neuromuscular Disorders被引频次




书目名称Genetic Neuromuscular Disorders被引频次学科排名




书目名称Genetic Neuromuscular Disorders年度引用




书目名称Genetic Neuromuscular Disorders年度引用学科排名




书目名称Genetic Neuromuscular Disorders读者反馈




书目名称Genetic Neuromuscular Disorders读者反馈学科排名

Diuretic

分期付款

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.

Hiatal-Hernia

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

痛苦一生

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

Pseudoephedrine

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

Pseudoephedrine

Charade

,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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