【摘 要】
：
Objective: Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of disorders characterized by progressive, pure motor axonal neuropathy.Mutations in the small
【机 构】
：
Department of Neurology, Peking University third hospital, China
【出 处】
：
首届中国遗传与疾病论坛——常见与罕见神经遗传病规范化诊治学术交流会
论文部分内容阅读
Objective: Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of disorders characterized by progressive, pure motor axonal neuropathy.Mutations in the small heat-shock protein HSPB1 are responsible for one form of dHMN.Patients: Here we report a Chinese family with strikingly asymmetrical late onset dominant dHMN.3 patients spanning 2 generations (proband 53-year-old man, his brother and his mother) developed asymmetrical distal limb weakness, muscular atrophy after the fourth decade.Results and Conclusion: Gene testing had excluded mutation in MFN2, GJB1 and HSPB8.2 affected family members had a heterozygous missense mutation cDNA 379C→T(127Arg→Trp)in HSPB1 gene.
其他文献
目的：研究神经梅毒(NS)临床表现和诊断治疗的方法.方法：回顾性分析北京协和医院自1999年1月至2012年5月间住院期间确诊的37例NS患者的临床资料.结果：自2006年以来,诊断NS患者数明显上升.确诊病例中发病年龄中位数45(27-71)岁,男女比例为2.4:1.其中3例合并HIV感染.无症状NS5例(占13.5％),有症状脑膜炎型11例(占29.7％),脑膜血管梅毒7例(占18.9％),实
The global spread of methicillin-resistant Staphylococcus aureus (MRSA) has been a serious problem worldwide, and the situation is very severe in mainland China.In order to better understand the natio
随着真菌感染发生率的不断上升,临床对抗真菌药物体外敏感性的需求越来越迫切,真菌药敏试验的正确操作和解读为临床治疗提供了重要参考信息.本文首先讲述了美国临床与实验室标准化委员会(CLSI)制定了一系列真菌药敏试验相关指南，包括M27-A3和M27-S4酵母菌肉汤稀释法药敏试验参考方法、M38-A2丝状真菌肉汤稀释法药敏试验参考方法、M44-A2和M44-S3酵母菌纸片扩散法药敏试验参考方法、M51-
目的：了解该院2012年临床分离细菌对抗菌药物的耐药性.方法：共收集6662株非重复的细菌,采用纸片扩散法或自动化仪器法进行药敏试验,结果按CLSI2012年版标准判读药敏结果,采用WHONET5.6软件进行数据分析.结果：6662株非重复的细菌中10个最常见的细菌分别为:大肠埃希菌(17.0％),铜绿假单胞菌(11.4％),鲍曼不动杆菌(11.4％),金黄色葡萄球菌(11.2％),肺炎克雷伯菌(
The Vitek MS matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometry (MS) instruments was evaluated for the identification of yeast isolates.A total of 1058 yeasts wer
目的：探讨Ehlers-Danlos综合征(EDS)的运动发育障碍、遗传、皮肤-骨骼肌病理特征.方法：对1例经典型EDS患儿L的病史、临床表现、基因以及病理特征和随访2年结果进行回顾性分析.结果：患儿表现为皮肤弹力增加,关节伸展过度,四肢肌张力减低,运动发育里程碑明显延迟.然而,随着年龄的增加,运动状态逐渐得到改善.皮肤病理改变为皮肤真皮层变薄,胶原纤维数量减少,排列疏松、紊乱,弹力纤维数量增多并
目的：探索我国浙江地区汉族人群基质金属蛋白酶-14(matrix metalloproteinase-14,MMP-14)基因外显子区单核苷酸多态性和大动脉粥样硬化型脑梗死的相关性.方法：收集大动脉粥样硬化型脑梗死患者574例,健康对照者463例.应用TaqMan探针法确定MMP-14基因两个单核苷酸多态性(single nucleotide polymorphism,SNP)位点(rs10427