title: Intermediate Charcot-Marie-Tooth disease.
abstract: Charcot-Marie-Tooth (CMT) disease is a common neurogenetic disorder and its heterogeneity is a challenge for genetic diagnostics. The genetic diagnostic procedures for a CMT patient can be explored according to the electrophysiological criteria: very slow motor nerve conduction velocity (MNCV) (<15 m/s), slow MNCV (15-25 m/s), intermediate MNCV (25-45 m/s), and normal MNCV (>45 m/s). Based on the inheritance pattern, intermediate CMT can be divided into dominant (DI-CMT) and recessive types (RI-CMT). GJB1 is currently considered to be associated with X-linked DI-CMT, and MPZ, INF2, DNM2, YARS, GNB4, NEFL, and MFN2 are associated with autosomal DI-CMT. Moreover, GDAP1, KARS, and PLEKHG5 are associated with RI-CMT. Identification of these genes is not only important for patients and families but also provides new information about pathogenesis. It is hoped that this review will lead to a better understanding of intermediate CMT and provide a detailed diagnostic procedure for intermediate CMT.
authors.affiliation: Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, 410013, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Liu
authors.affiliation: Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha, 410013, China. zhangruxu@vip.163.com.
authors.forename: Ruxu
authors.initials: R
authors.lastname: Zhang
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics; D017630:Connexins / Q000235:genetics*; D004568:Electrodiagnosis; D006801:Humans; D009154:Mutation; D009431:Neural Conduction / Q000235:genetics
chemical_list: D017630:Connexins