1) SCN4A
正常血钾性周期麻痹
1.
Objective The present study is to observe in vitro the proliferation ability of the muscle cells from permanent myopathy (PM) patients of nomokalaemic periodic paralysis (normKPP),which is caused by mutations of Met1592Val in the skeletal muscle voltage gated sodium channel (SCN4A) gene on chromosome 17q23.
目的正常血钾性周期麻痹是由位于17号染色体上编码人类骨骼肌钠通道基因(SCN4A)发生突变所致,以肢体无力短暂、反复发作并完全恢复为特点,部分患者可发展为永久性肌病(permanent myopathy,PM),该病的发病机制尚不清楚,至今也无有效的治疗方法。
2) normokalemic periodic paralysis
正常血钾型周期性麻痹
1.
The mutation V781I in SCN4A gene exists in Chinese patients with normokalemic periodic paralysis;
正常血钾型周期性麻痹存在SCN4A基因V781I突变
3) normoKPP
正常血钾周期性麻痹
1.
We recruited a normoKPP family in Hubei China and evaluated genetic variations responsible for the disease.
我们对一个来自湖北省的正常血钾周期性麻痹家系进行致病基因突变检测。
4) hypokalemic periodic paralysis
低血钾型周期性麻痹
1.
Results Six cases of FPP were diagnosed as hypokalemic periodic paralysis,and all occured as an autosomal do.
结果6例为家族性低血钾型周期性麻痹,具有常染色体显性遗传的特征;发作时血清钾1。
5) Hypokalemic periodic paralysis
低钾性周期性麻痹
1.
Hypokalemic periodic paralysis: report of a Chinese pedigree with a novel mutation site in SCN4A gene;
目的 通过检测相关基因的突变位点来研究低钾性周期性麻痹 (HOKPP)这一常染色体显性遗传疾病的遗传学病因。
6) Hypokalemic periodic paralysis
低钾型周期性麻痹
1.
Objective To find if the mutations that had been reported abroad exist in a patient with hypokalemic periodic paralysis.
目的探讨低钾型周期性麻痹患者是否存在相关基因的突变。
2.
Object: Hypokalemic periodic paralysis has gene disorders in chromosomes.
目的:低钾型周期性麻痹为一种常染色体发生基因突变的疾病,可以是由遗传获得性的突变基因,少数病例也可以是因受孕时生殖细胞发生基因突变而产生。
补充资料：正常
1.符合一般规律和情况。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条