title: Charcot-Marie-Tooth disease variants-classification, clinical, and genetic features and rational diagnostic evaluation.
abstract: Inherited neuropathies are among the most prevalent inherited neurologic disorders, and with current advances in molecular biology and genetic testing, the clinical spectrum of phenotype/genotype has been expanding enormously. Genetic testing is nowadays commercially available to several subtypes although many remain because of unknown genetic defect. A stepwise rational approach, which is shown in , facilitates reaching a specific diagnosis and reduces the cost.
authors.affiliation: Department of Neurology, University of South Alabama, Mobile, AL.
authors.forename: Bassam A
authors.initials: BA
authors.lastname: Bassam
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans