Charcot-Marie-Tooth disease
英
美
腓骨肌萎缩症
双语例句
- Charcot-Marie-Tooth disease type II with chromosome variation in a family
伴22号染色体异常的腓肌萎缩症Ⅱ型一家系报告 - Objective To study the clinical, neuro-electrophysiology features of Charcot-Marie-Tooth disease type 1A ( CMT1A) and its gene mutation analysis.
目的观察腓骨肌萎缩症（CMT）1A型的临床、神经电生理特点和疾病基因的突变分析。 - Two main modes of inheritance exist: X-linked and autosomal dominant. Clinical, Electrophysiological, Pathological, and Genetic Study in Chinese Charcot-Marie-Tooth Disease Patients with Type 1A and X-linked
本病存在两种主要的遗传方式：X-连锁型和常染色体显性型。中国人群中CMT1A和CMTX的临床、电生理、病理和遗传研究 - Conclusions Clinically, Kennedy disease was easy to be misdiagnosed as polymyositis, limb-girdle muscular dystrophy, even Charcot-Marie-Tooth disease. AR gene testing is the most reliable diagnosing method.
结论临床上Kennedy病多被误诊为多发性肌炎、肢带型肌营养不良，甚至Charcot-Marie-Tooth病等，AR基因检测是诊断本病最可靠的方法。 - The study of gene duplication in Charcot-Marie-Tooth disease type 1A patients
Charcot-Marie-Tooth病1A型基因重复诊断研究 - Detection of connexin 32 gene mutation in Xlinked dominant Charcot-Marie-Tooth disease
腓骨肌萎缩症CMTX1型的间隙连接蛋白32基因突变检测 - Clinical and electrophysiological study on charcot-Marie-Tooth disease type 1A with gene duplication
基因重复的进行性腓骨肌萎缩症1A型临床与电生理研究 - Clinical and Electrophysiological Analysis of Charcot-Marie-Tooth Disease Type 1
腓骨肌萎缩症1型临床与电生理分析 - Clinical, Electrophysiological, Pathological, and Genetic Study in Chinese Charcot-Marie-Tooth Disease Patients with Type 1 A and X-linked
中国人群中CMT1A和CMTX的临床、电生理、病理和遗传研究 - The results are attributed to nerve fibre disturbances in the central pathways with associated slowing of conduction as well as in the peripheral part in some of the patients with Charcot-Marie-Tooth disease.
这提示部分腓骨肌萎缩症病人，除周围神经受累外，还有中枢视觉、听觉及躯体感觉通路受累征象。 - Mutation analysis of small heat-shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease
中国人腓骨肌萎缩症小热休克蛋白27基因突变分析 - 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 - Peripheral neurophysiological and neuropathological studies on Charcot-Marie-Tooth atrophy disease in children
腓骨肌萎缩症患儿周围神经电生理和组织病理学的研究 - Study on the clinic, neuro-electrophysiology of Charcot-Marie-Tooth disease type 1A and its gene mutation analysis
腓骨肌萎缩症1A型的临床、神经电生理和疾病基因突变分析 - Clinical manifestations and changes of the serum myocardial enzyme in Charcot-Marie-Tooth disease
腓骨肌萎缩症的临床特点与心肌酶学改变 - A study of Charcot-Marie-Tooth disease in genetics, clinical manifestation and electrophysiology ( clinical analysis of 20 cases)
Charcot-Marie-Tooth病的遗传、临床和电生理观察（附20例临床分析） - Analysis of the clinical, electrophysiological and histopathological features of Chinese Charcot-Marie-Tooth disease patients with small heat-shock protein 27 gene mutation
小热休克蛋白27基因突变所致腓骨肌萎缩症患者的临床、电生理和病理特点 - A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing
伴有脑干听觉诱发电位异常的腓骨肌萎缩症发现连接蛋白32基因新突变 - [ Background and objective] Charcot-Marie-Tooth ( CMT) disease, also known as hereditary motor and sensory neuropathies ( HMSN), is genetically heterogeneous and characterized by slowly progressive distal muscle wasting and weakness with sensory loss.
[背景与目的]腓骨肌萎缩症（Charcot-Marie-Tooth，CMT）亦称为遗传性运动感觉神经病，具有明显的遗传异质性，临床主要特征是四肢远端进行性的肌无力、肌萎缩以及感觉障碍。