Journal
NEUROLOGIC CLINICS
Volume 31, Issue 2, Pages 597-+Publisher
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.ncl.2013.01.009
Keywords
Charcot-Marie-Tooth; Inherited neuropathy; Genetic testing
Categories
Funding
- NINDS/ORD
- Muscular Dystrophy Association
- Charcot-Marie-Tooth Association
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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.
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