1) 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
2) axonal Charcot-Marie-Tooth disease type 2L
轴突型腓骨肌萎缩症2L型
1.
Objective To study the possible mechanism of the intracellular aggregate formation of small heat shock protein HSPB8(?HSPB8)(K141N)mutation resulting in axonal Charcot-Marie-Tooth disease type 2L(CMT2L).
目的探讨轴突型腓骨肌萎缩症2L型(axonal Charcot-Marie-Tooth disease type 2L,CMT2L)致病基因小分子热休克蛋白HSPB8(smallheatshockproteinHSPB8,HSPB8)的K141N突变导致细胞内聚集物形成的可能机理。
3) 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
4) Charcot-Marie-Tooth disease type 1
腓骨肌萎缩症1(CMT1)型
5) Marie-Tooth disease type 2D
腓骨肌萎缩症2D型
1.
Background:Adolescent—onset bilateral distal upper extremities muscular atrophy is an uncommon clinical entity,which includes Juvenile muscular atrophy of the distal upper extremity(JMADUE,also named Hirayama disease),Charcot-Marie-Tooth disease type 2D(CMT2D),and motor neuron disease(such as distal spinal muscular atrophy typeⅤ(dSMAV) and amyotrophic lateral sclerosis(ALS)).
神经源性病变可分为原发性和继发性两类,原发性病变主要见于青年单侧上肢远端肌萎缩症(平山病)、腓骨肌萎缩症2D型和运动神经元病(肌萎缩性侧索硬化、远端脊肌萎缩症)等;继发性病变主要见于脊髓外伤、感染(脊髓灰质炎)、肿瘤、颈椎病、营养不良、中毒等。
6) 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。
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