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Neurological Review
June 2006

Finding the Causes of Inherited Neuropathies

Author Affiliations

Author Affiliation: University of Pennsylvania Medical School, Philadelphia.

 

DAVID E.PLEASUREMD

Arch Neurol. 2006;63(6):812-816. doi:10.1001/archneur.63.6.812

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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