遗传性感觉神经病
- 网络HSN;hereditary sensory neuropathy
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[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。
[ 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 .
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Ia型遗传性运动感觉神经病的临床严重程度和轴突功能障碍
Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia
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遗传性感觉交感神经病Ⅰ型一家系的临床、电生理和病理改变
Clinical electrophysiological and pathological study on hereditary sensory and autonomic neuropathy type ⅰ in a Chinese family
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遗传性感觉神经根神经病及染色体组型分析
The karyotype analysis in a family of hereditary sensory radicular neuropathy
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本文报告了一个家庭三例遗传性感觉神经根神经病患者的临床表现,并对其中二例及其父母的染色体作了核型分析。
This paper reported a family in which 3 members suffered from hereditary sensory radicular neuropathy , and described the clinical features of the patients , and analysed the chromosomal karyotype of two patients and of their parents .