[Molecular basis of Charcot-Marie-Tooth neuropathy].
Charcot-Marie-Tooth neuropathy (CMT) is the most common inherited peripheral neuropathy. CMT is classified into type types on the basis of pathological and electrophysiological findings: type 1(CMT1), characterized by decreased nerve conduction velocities and by "onion bulb" formation: type 2(CMT2), in which nerve conduction velocities are normal and "onion bulb" formations are rarely seen. CMT1 loci map to chromosome 17 (CMT1A), chromosome 1(CMT1B), another unknown autosome (CMT1C) and the X chromosome (CMTX). Recent work has identified the gene products corresponding to CMT1A, CMT1B and CMTX as peripheral myelin protein-22(PMP22), Po and connexin 32, respectively. Dejerine-Sottas disease has been identified as being caused by the mutation of PMP-22 or Po gene.
Hayasaka
K
K
Department of Pediatrics, Yamagata University School of Medicine.
D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000235:genetics* / Q000473:pathology; D017630:Connexins / Q000235:genetics; D006801:Humans; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics; D009431:Neural Conduction; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D009185:Myelin Proteins; D000097002:Gap Junction beta-1 Protein; C073687:PMP22 protein, human