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Finding the Causes of Inherited Neuropathies
Steven S. Scherer, MD, PhD
Arch Neurol. 2006;63:812-816.
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INTRODUCTION
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).
Table appears in full text version.
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Table. Genetics of Nonsyndromic Inherited Neuropathies
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WHAT IS CHARCOT-MARIE-TOOTH DISEASE?
More than a century ago, Charcot, Marie, and Tooth described patients who, as we now understand it, have a . . . [Full Text of this Article]
DOMINANT KINDS OF CMT
RECESSIVE KINDS OF CMT
CONGENITAL HYPOMYELINATING NEUROPATHY AND DSN
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES
HEREDITARY MOTOR NEUROPATHIES
INHERITED NEUROPATHY AS PART OF A SYNDROME
FINDING THE CAUSES
AUTHOR INFORMATION
Author Affiliation: University of Pennsylvania Medical School, Philadelphia.
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