Titlebook: Genetic Neuromuscular Disorders; A Case-Based Approac Corrado Angelini Book 20141st edition Springer International Publishing Switzerland 2

retort

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

extinguish

喃喃而言

ALIAS

Heinrich Freiherrn von Bretfeldearly loss of ambulation. The causative gene has been identified as the SGCG, encoding gamma-sarcoglycan protein (Table 11.1). Mutations in such families were described in 1995, and since then a number of patients have been identified.

Boycott

过去分词

过去分词

Emery-Dreifuss Muscular Dystrophy Type 2sed by mutations in the LMNA gene (Table 5.1), which encodes lamin A/C localized to the nuclear envelope. The gene undergoes an alternative splicing encoding at least four different RNA and related proteins. There is a striking frequency of de novo mutation, and therefore many cases might appear as sporadic.

有危险

Limb-Girdle Muscular Dystrophy Type 2Cearly loss of ambulation. The causative gene has been identified as the SGCG, encoding gamma-sarcoglycan protein (Table 11.1). Mutations in such families were described in 1995, and since then a number of patients have been identified.

CLASH

Limb-Girdle Muscular Dystrophy Type 2Kously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation.

LEVY