1) Charcot-Marie-Tooth disease
腓骨肌萎缩征
2) Charcot Marie Tooth disease
腓骨肌萎缩症
1.
Objective To study the characteristic of the mutation of neurofilament light (NF L) gene in Chinese Charcot Marie Tooth disease (CMT) patients.
目的 探讨神经丝轻链基因 (neurofilament lightgene ,NF L)在中国人腓骨肌萎缩症 (Charcot Marie Toothdisease ,CMT)中的突变特点。
2.
Objective To report a Chinese Charcot Marie Tooth disease (CMT) family whose proband had abnormal brainstem auditory evoked potentials (BAEPs) and to study its relationship with connexin 32 (Cx32) gene mutation.
目的 报告一个脑干听觉诱发电位有异常改变的腓骨肌萎缩症 (Charcot- Marie- Tooth dis-ease,CMT)家系 ,并探讨与连接蛋白 32 (connexin32 ,Cx32 )基因突变的关系。
3.
Objective To study the Cx32 gene mutation in a X linked recessive Charcot Marie Tooth disease (CMTXR) family.
目的 探讨X 连锁隐性遗传的腓骨肌萎缩症 (CMTXR)与Cx32基因突变的关系。
3) Charcot Marie Tooth 1A
腓骨肌萎缩症1A
4) Charcot-Marie-Tooth disease
腓骨肌萎缩症
1.
The same mutation Glu208Lys in the GJB1 gene was detected in 2 families with X-linked Charcot-Marie-Tooth disease;
在两个X连锁显性腓骨肌萎缩症家系中发现同一GJB1基因突变Glu208Lys
2.
Detection of abnormal gene duplication in Charcot-Marie-Tooth disease;
腓骨肌萎缩症基因重复异常的检测
3.
Mutation of Cx32 gene,clinical and electrophysiological features in patients with Charcot-Marie-Tooth disease;
X连锁腓骨肌萎缩症Cx32基因的突变、临床和电生理特点
5) Charcot-Marie-Tooth disease type 2L
腓骨肌萎缩症2L型
1.
Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L;
定位于12q24的腓骨肌萎缩症2L型10个候选基因的排除克隆
6) Charcot-Marie-Tooth disease type 2F
腓骨肌萎缩症2F型
1.
Clinical analysis of a Charcot-Marie-Tooth disease type 2F family in china;
腓骨肌萎缩症2F型1家系临床分析
补充资料：肌萎缩性侧索硬化症
肌萎缩性侧索硬化症
一种原因未明的进行性的神经系统变性疾病，可能与遗传、中毒、损伤、感染有关。突出的病理变化为皮质延髓束和皮质脊髓束的变性，脊髓前角细胞以及脑干运动神经核的损害。锥体束的变性最早出现在脊髓比较低的部位，随病程进展，逐渐向高位脊髓及脑干推进。肌肉表现有神经性肌萎缩的典型征象。临床特点为：多数病人发生于30～50岁之间，男性较女性发病率高。患者可有麻木和发凉等感觉异常，肌肉无力，挛缩，肌束颤动及萎缩，持久性腱反射亢进和病理反射，随时间增长，无力症状扩展到躯干及颈部，最后累及面部及延髓支配的肌肉，出现其相应症状和体征。本病无特殊治疗措施。
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