hereditary neuropathy

Hereditary neuropathy with liability to pressure palsy presenting with an acute inflammatory demyelinating polyneuropathy ( Fren )

遗传性神经病相关的压力型瘫痪伴急性炎症性脱髓鞘性多发性神经病（法国）

Hereditary neuropathy with liability to pressure palsies ( HNPP ) is a rare autosomal dominant inherited disease characterized by recurrent painless focal neuropathy precipitated by compression or trauma .

遗传性压迫易感性神经病（hereditaryneuropathywithliabilitytopressurepalsies，HNPP）是一种少见的常染色体显性遗传的周围神经病。

Chinese patients with distal hereditary motor neuropathy : an analysis of clinical characteristics

远端型遗传性运动神经病的临床特征分析多神经炎型遗传性运动失调

Clinical Analysis of 24 Cases of Leber 's Hereditary Optic Neuropathy

Leber遗传性视神经病变24例临床分析

Hereditary Peripheral Neuropathy of the Lower Limb : 5 Case Reports from 1 Family

遗传性下肢周围神经病变伴难愈性足部溃疡一家系5例报告

New primary mutation of mtDNA in Leber ′ s hereditary optic neuropathy

Leber遗传性视神经病变mtDNA新原发突变位点研究

Relationship between Leber hereditary optic neuropathy and 14484 mutation in mtDNA in Chinese

中国人mtDNA14484位点突变与Leber's视神经遗传性疾病

Pedigrees of Leber 's hereditary optic neuropathy with 14484 mutation in China

中国Leber遗传性视神经病变14484位点突变的家系分析

Clinical Study on Treatment of Leber Hereditary Optic Neuropathy by Wuzi Yanzong Decoction

五子衍宗汤治疗Leber遗传性视神经病变的临床研究

MtDNA mutation detection in Leber hereditary optic neuropathy families

Leber遗传性视神经病变家系线粒体DNA突变检测

Leber 's hereditary optic neuropathy and cell apoptosis

Leber遗传性视神经病变与细胞凋亡

Penetrance of Leber hereditary optic neuropathy in Chinese individuals with mitochondrial DNA 11778 mutation

线粒体DNA11778突变所致Leber遗传性视神经病变外显率分析

The major types and clinical manifestations of mitochondrial DNA mutations in Chinese patients with Leber 's hereditary optic neuropathy

中国人Leber遗传性视神经病变线粒体DNA突变的主要类型和临床特征

Detection of mitochondrial DNA and Chinese medicine-discrimination analysis in patients with Leber ′ s hereditary optic neuropathy

Leber遗传性视神经病变患者的线粒体DNA检测及中医辨证分析

Objective To analyze the new primary mutation in Chinese people with Leber ′ s hereditary optic neuropathy ( LHON ) .

目的分析中国Leber遗传性视神经病变（LHON）患者是否存在新的原发突变位点。

Alterations in multifocal visual evoked potentials during the acute phase of Leber 's hereditary optic neuropathy

Leber遗传性视神经病变急性期多焦视觉诱发电位的改变

Effect of Wuzi Yanzong Decoction of mitochondrial DNA mutation ratios in patients with Leber hereditary optic neuropathy

五子衍宗汤对Leber遗传性视神经病变患者线粒体基因突变比率的影响

Objective To preliminarily analyze mitochondrial gene mutations of a five generation LHON ( Leber hereditary optic neuropathy ) pedigree with peculiar expression .

目的探讨一个5代遗传的具有独特表型的Leber遗传性视神经病（LHON）家系的线粒体基因突变。

Objective Leber hereditary optic neuropathy ( LHON ) is a maternally inherited disease characterized by a bilateral optic neuropathy .

目的Leber遗传性视神经病变（Leberhereditaryopticneuropathy，LHON）是一种主要累及视盘黄斑束纤维，导致视神经退行性变的母系遗传性疾病。

Objective To analyze the penetrance of Leber hereditary optic neuropathy ( LHON ) individuals with mitochondrial DNA 11778 mutation in Shanxi .

目的分析山西地区线粒体DNA11778位点突变者外显率。

Detection of mtDNA 11778 ( G → A ) Point Mutation in a Family with Leber 's Hereditary Optic Neuropathy by Site-specific Polymerase Chain Reaction

用位点特异PCR法检测Leber遗传性视神经病家系的mtDNA11778G→A点突变

Objective : To explore the best analyzed condition of PCR-SSCP in detecting three mtDNA mutation for the patients with Leber hereditary optic neuropathy ( LHON ) .

目的探讨PCR-SSCP技术检测Leber遗传性视神经病变（LHON）线粒体DNA（mtDNA）3个原发突变的最佳分析条件。

Objective To explore the relationship between Leber hereditary optic neuropathy ( LHON ) and the 14484 mutation in human mitochondrion DNA ( mtDNA ) in Chinese .

目的探讨mtDNA14484位点突变与中国人Leber's视神经遗传性疾病的关系。

With more and more DNA mutation associated with Leber 's hereditary optic neuropathy ( LHON ) found , experimental gene therapy of LHON is becoming promising .

在更多的DNA点突变被发现与Leber遗传性视神经病（LHON）相关同时，成功的实验性基因治疗为未来临床治疗LHON提供了可能。

Leber 's hereditary optic neuropathy ( LHON ) , a common blinding disease , is a maternally inherited degeneration of the optic nerve caused by point mutations of mitochondrial DNA .

Leber遗传性视神经病是由于线粒体基因突变导致的母系遗传性常见致盲眼疾。

Objective To investigate the results from genetic detecting in Leber 's hereditary optic neuropathy ( Leber 's disease ) and optic neuropathy of unknown reason , and to assess the clinical values of this detection .

目的了解Leber遗传性视神经病变（简称Leber病）及病因不明的视神经疾病基因检测结果，探讨该项检查的临床意义。

Objective To study the primary mutations of mitochondrial DNA ( mtDNA ) associated with Leber ′ s hereditary optic neuropathy ( LHON ) in patients with optic neuropathy . Methods Seventy nine patients with a variety of bilateral optic neuropathy were examined .

目的探讨与Leber's遗传性视神经病变（Leber'sHereditaryOpticNeuropathy，LHON）相关的线粒体DNA原发位点突变在视神经疾病中的诊断意义。

The karyotype analysis in a family of hereditary sensory radicular neuropathy

遗传性感觉神经根神经病及染色体组型分析

The differentiation of hereditary sensory radicular neuropathy from pure-neuritic leprosy

遗传性感觉神经根病8例报告&与纯神经炎麻风的鉴别

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 .

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。