Journal article
Inherited Peripheral Neuropathies
Neurologic clinics, Vol.31(2), pp.597-619
05/2013
DOI: 10.1016/j.ncl.2013.01.009
PMCID: PMC3646296
PMID: 23642725
Abstract
Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral neuropathies in which the neuropathy is the sole or primary component of the disorder, as opposed to diseases in which the neuropathy is part of a more generalized neurologic or multisystem syndrome. Because of the great genetic heterogeneity of this condition, it can be challenging for the general neurologist to diagnose patients with specific types of CMT. This article reviews the biology of the inherited peripheral neuropathies, delineates major phenotypic features of the CMT subtypes, and suggest strategies for focusing genetic testing.
Details
- Title: Subtitle
- Inherited Peripheral Neuropathies
- Creators
- Mario A Saporta - National Laboratory of Embryonic Stem Cells, Biomedical Sciences Department, Federal University of Rio de Janeiro, Rua Republica do Peru 362/602, Rio de Janeiro 22021-040, BrazilMichael E Shy - Department of Neurology, University of Iowa, 200 Hawkins Drive, Iowa City, IA 52242, USA
- Resource Type
- Journal article
- Publication Details
- Neurologic clinics, Vol.31(2), pp.597-619
- DOI
- 10.1016/j.ncl.2013.01.009
- PMID
- 23642725
- PMCID
- PMC3646296
- NLM abbreviation
- Neurol Clin
- ISSN
- 0733-8619
- eISSN
- 1557-9875
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 05/2013
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984020786602771
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