title: Charcot-Marie-Tooth disease.
abstract: Charcot-Marie-Tooth (CMT) disease is the commonest inherited neuromuscular disorder affecting at least 1 in 2,500. Over the last two decades, there have been rapid advances in understanding the molecular basis for many forms of CMT with more than 30 causative genes now described. This has made obtaining an accurate genetic diagnosis possible but at times challenging for clinicians. This review aims to provide a simple, pragmatic approach to diagnosing CMT from a clinician's perspective.
authors.affiliation: MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, UK. m.reilly@ion.ucl.ac.uk
authors.forename: Mary M
authors.initials: MM
authors.lastname: Reilly
authors.forename: Sinéad M
authors.initials: SM
authors.lastname: Murphy
authors.forename: Matilde
authors.initials: M
authors.lastname: Laurá
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans