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[遗传性运动和感觉神经病。临床与分子遗传学方面]

[Hereditary motor and sensory neuropathies. Clinical and molecular genetic aspects].

作者信息

Lechner-Scott J S, Scott R J, Steck A J, Kappos L

机构信息

Neurologische Universitätsklinik, Kantonsspital, Basel.

出版信息

Schweiz Arch Neurol Psychiatr (1985). 1995;146(4):157-67.

PMID:8533057
Abstract

Hereditary motor sensory neuropathies are a heterogeneous group of inherited diseases of the peripheral nerves. In this review the clinical and genetic differences between the sub-groups of this disease will be discussed. Since the discovery of a 1.5 mb duplication on chromosome 17 p11.2-12 in most patients with a hereditary motor sensory neuropathy and a variety of different mutations on chromosomes 1 and X in other patients with a similar disease profile, Dycks' clinical classification needs to be re-evaluated. In this review Dycks' taxonomy of heridihary neuropathies will be compared to a new genetic classification and a relevant diagnostic procedure proposed when a hereditary neuropathy is suspected.

摘要

遗传性运动感觉神经病是一组周围神经遗传性疾病的统称。在这篇综述中,我们将讨论该疾病各亚组之间的临床和遗传差异。自从在大多数遗传性运动感觉神经病患者的17号染色体p11.2 - 12区域发现1.5兆碱基的重复,以及在其他具有相似疾病特征的患者的1号和X染色体上发现各种不同突变以来,戴克的临床分类需要重新评估。在这篇综述中,我们将把戴克的遗传性神经病分类法与一种新的基因分类法以及当怀疑患有遗传性神经病时建议的相关诊断程序进行比较。

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