Charcot-Marie-Tooth disease type 2.
No unique genes have yet been found for CMT2, but both Cx32 and P0 appear to contribute to the phenotype. Not surprisingly, CMT2 is likely to display much more genetic heterogeneity than CMT1. However, it is also likely continue to challenge previous concepts on classification and relationship of traditional inherited phenotypes in neurology. Future work on CMT2 should produce insight not only into the cellular interactions of the peripheral nerve especially Schwann cell and axon relationships, but also into idiopathic neuropathy.
Vance
J M
JM
Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA. jeff@dnadoc.mc.duke.edu
D001369:Axons / Q000502:physiology; D002607:Charcot-Marie-Tooth Disease / Q000145:classification* / Q000235:genetics* / Q000503:physiopathology; D017630:Connexins / Q000235:genetics; D006801:Humans; D018993:Myelin P0 Protein / Q000235:genetics; D012583:Schwann Cells / Q000502:physiology; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D018993:Myelin P0 Protein; D000097002:Gap Junction beta-1 Protein