4.0 Review

Finding the causes of inherited neuropathies

期刊

ARCHIVES OF NEUROLOGY
卷 63, 期 6, 页码 812-816

出版社

AMER MEDICAL ASSOC
DOI: 10.1001/archneur.63.6.812

关键词

-

向作者/读者索取更多资源

The genetic causes of inherited neuropathies and their classification are the topics of this review. The large number of disorders as well as cumbersome and even inconsistent nomenclature make this a daunting task. Owing to limited space, I will not elaborate on the clinical features or diagnostic approaches of these disorders, and the primary literature is not referenced; these topics are more fully discussed elsewhere. (1-4) In addition, much information can be found in Online Mendelian Inheritance in Man (OMIM) (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM; the 6-digit OMIM numbers of various disorders are given in the text and in the Table), the Mutation Database of Inherited Peripheral Neuropathies (http://www.molgen.ua.ac.be/CMTMutations), and the Neuromuscular Disease Center of Washington University (http://www.neuro.wustl.edu/neuromuscular).

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.0
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据