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Semin Neurol. 2011 Nov;31(5):494-505. doi: 10.1055/s-0031-1299788. Epub 2012 Jan 21.

Genetics of neuropathies.

Author information

  • 1Department of Neurology, Wayne State University, Detroit, Michigan, USA. csiskind@stanfordmed.org

Abstract

Charcot-Marie-Tooth disease (CMT) encompasses the heritable motor and sensory neuropathies that comprise most of the inherited peripheral neuropathies. Due to the great genetic heterogeneity of the condition, it can be difficult to determine what type of CMT a person has. The major phenotypic features of the CMT subtypes are delineated, as well as recommendations for focused genetic testing.

PMID:
22266887
DOI:
10.1055/s-0031-1299788
[PubMed - indexed for MEDLINE]
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