title: Inherited peripheral neuropathies.
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.
authors: 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, Brazil. mariosaporta@gmail.com
authors: Mario A
authors: MA
authors: Saporta
authors: Michael E
authors: ME
authors: Shy
mesh_terms: D000328:Adult; D018740:Genetic Heterogeneity; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009431:Neural Conduction / Q000235:genetics; D010523:Peripheral Nervous System Diseases / Q000235:genetics* / Q000503:physiopathology
chemical_list: D008565:Membrane Proteins
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