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

retort

書目名稱Genetic Neuromuscular Disorders影響因子(影響力)




書目名稱Genetic Neuromuscular Disorders影響因子(影響力)學(xué)科排名




書目名稱Genetic Neuromuscular Disorders網(wǎng)絡(luò)公開度




書目名稱Genetic Neuromuscular Disorders網(wǎng)絡(luò)公開度學(xué)科排名




書目名稱Genetic Neuromuscular Disorders被引頻次




書目名稱Genetic Neuromuscular Disorders被引頻次學(xué)科排名




書目名稱Genetic Neuromuscular Disorders年度引用




書目名稱Genetic Neuromuscular Disorders年度引用學(xué)科排名




書目名稱Genetic Neuromuscular Disorders讀者反饋




書目名稱Genetic Neuromuscular Disorders讀者反饋學(xué)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

過去分詞

過去分詞

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.

有危險

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