title: Peripheral neuropathies: Molecular diagnosis of Charcot-Marie-Tooth disease.
abstract: Charcot–Marie–Tooth disease (CMT) is a hereditary neuropathy attributed to mutations in more than 30 different genes. A recent study identified the causative mutation in 67% of 787 screened patients with CMT, and the findings raise important issues concerning genetic testing for CMT.
authors.affiliation: Service of Neurology, University Hospital Marqués de Valdecilla, University of Cantabria, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Santander, Spain. jaberciano@humv.es
authors.forename: José
authors.initials: J
authors.lastname: Berciano
mesh_terms: D001369:Axons / Q000473:pathology; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D003711:Demyelinating Diseases / Q000235:genetics / Q000473:pathology; D006801:Humans; D009154:Mutation / Q000235:genetics; D009460:Neurologic Examination; D010523:Peripheral Nervous System Diseases / Q000145:classification / Q000175:diagnosis* / Q000235:genetics*; D010641:Phenotype