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
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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).
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