title: Genetics of neuropathies.
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.
authors.affiliation: Department of Neurology, Wayne State University, Detroit, Michigan, USA. csiskind@stanfordmed.org
authors.forename: Carly E
authors.initials: CE
authors.lastname: Siskind
authors.forename: Michael E
authors.initials: ME
authors.lastname: Shy
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D018740:Genetic Heterogeneity; D005820:Genetic Testing; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D009154:Mutation