Copyright
©2013 Baishideng Publishing Group Co., Limited. All rights reserved.
Advances in the molecular diagnosis of Charcot-Marie-Tooth disease
Paschalis Nicolaou, Kyproula Christodoulou, Neurogenetics Department, Cyprus Institute of Neurology and Genetics, 1683 Nicosia, Cyprus
Author contributions: Nicolaou P and Christodoulou K contributed equally to the design, drafting and revision of the manuscript and both approved the final version.
Correspondence to: Kyproula Christodoulou, PhD, Professor of the Cyprus School of Molecular Medicine, Head of the Neurogenetics Department, Cyprus Institute of Neurology and Genetics, 6 International Airport Av., P.O. Box 23462, 1683 Nicosia, Cyprus. roula@cing.ac.cy
Telephone: +357-22-392649 Fax: +357-22-392615
Received: June 28, 2013
Revised: August 1, 2013
Accepted: August 16, 2013
Published online: September 28, 2013
Revised: August 1, 2013
Accepted: August 16, 2013
Published online: September 28, 2013
Core Tip
Core tip: Charcot-Marie-Tooth (CMT) disease is the most common neuromuscular disorder affecting at least 1 in 2500. CMT according to electrophysiological and pathological findings is categorised into demyelinating, axonal and intermediate forms and inheritance can be autosomal dominant, X-linked, or autosomal recessive. More than 30 causative genes have been identified. This editorial aims to present an efficient account of molecular diagnostic procedures for CMT, based on clinical, pathological and electrophysiological findings as well as summarize the most frequent causative mutations.