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Neurol Clin ; 31(2): 597-619, 2013 May.
Article in English | MEDLINE | ID: mdl-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.


Subject(s)
Genetic Heterogeneity , Membrane Proteins/genetics , Mutation/genetics , Peripheral Nervous System Diseases/genetics , Adult , Genetic Testing , Humans , Male , Neural Conduction/genetics , Peripheral Nervous System Diseases/physiopathology
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