查询词典 myotonia

In this study, we show that myotonia congenita-related mutations influence the biogenesis and the subcellular localization of hClC-1 channels.

本研究中证实与先天性肌肉强直症相关之突变会影响hClC-1蛋白质的表现总量与蛋白质分布型态，为先天性肌肉强直症的致病机转提供一个新的方向。

Malign and integrated ask for (Neuroleptic Malignant Syndrome, NMS) by France psycho person Delay reported first 1960, it is to point to a kind when fight chlorpromazine content be caused by scarce, serious medicaments is undesirable reaction, its are clinical the feature basically is calorific, myotonia, own nerve function is mixed mussily apparent mental symptom.

梗概： 恶性综合征(Neuroleptic malignant syndrome，NMS)由法国精神病学者Delay于1960年首次报道，是指抗精神病药物所致的一种少见的、严重的药物不良反应，其临床特征主要为发热、肌强直、自主神经功能紊乱和明显的精神症状。

Methods The clinical data of 22 patients in the myotonia congenital kindred were analysed.

对一先天性肌强直家系中的22例患者的临床资料进行分析。

It is marked by myotonia as well as muscle wasting and weakness.

它的特点是肌强直以及肌肉消瘦和虚弱。

Myotonia seem s to originate in the muscles rather than the nervous system.

病变似乎是在肌肉本身，而不是在神经系统。

Objective To investigate the clinical festures and CLCN1 gene mutation screen on a myotonia congenital kindred.

目的 探讨先天性肌强直一家系的临床特点及CLCN1基因突变情况。

This characteristic is caused by a hereditary disorder called myotonia congenita.

这种情形是由一种称做「先天性肌强直症」的遗传性疾病所引起。

Patients have paradoxic myotonia (myotonia that worsens with repeated activity) and periodic paralysis.

患者表现为反常性肌强直（即在活动中出现肌强直，随持续或反复活动而加重）和周期性麻痹。

Another feature of this syndrome is delayed muscle relaxation, which differs from true myotonia by absent percussion myotonia and increased rather than decreased stiffness during continued activity.

Isaacs综合征的另一个特点是肌肉松弛延缓。1。 Isaacs综合征患者，无叩击性肌强直；2。持续活动期间，肌强直加剧而非减轻。

Current neurological examination disclosed percussion myotonia and myotonia as and DNA analysis. The patient's mother, though minimally affected, had similar laboratory results.

神经学检查，发现有肌强直现象，并由典型的肌电图变化及脱氧核醣核酸分析，确定为先天型肌强直失养症的此病。

According to the clear water experiment, aeration performance of the new equipment is good with high total oxygen transfer coefficient and oxygen utilization ratio.

曝气设备的动力效率在叶轮转速为120rpm～150rpm时取得最大值，此时氧利用率和充氧能力也具有较高值。

The environmental stability of that world - including its crushing pressures and icy darkness - means that some of its most famous inhabitants have survived for eons as evolutionary throwbacks, their bodies undergoing little change.

稳定的海底环境─包括能把人压扁的压力和冰冷的黑暗─意谓海底某些最知名的栖居生物已以演化返祖的样态活了万世，形体几无变化。