Article
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.
American journal of human genetics - 1 Mar 2003
Verhoeven Kristien, De Jonghe Peter, Coen Katrien, Verpoorten Nathalie, Auer-Grumbach Michaela, Kwon Jennifer M, FitzPatrick David, Schmedding Eric, De Vriendt Els, Jacobs An, Van Gerwen Veerle, Wagner Klaus, Hartung Hans-Peter, Timmerman Vincent
Abstract excerpt
Charcot-Marie-Tooth type 2B (CMT2B) is clinically characterized by marked distal muscle weakness and wasting and a high frequency of foot ulcers, infections, and amputations of the toes because of recurrent infections. CMT2B maps to chromosome 3q13-q22. We refined the CMT2B locus to a 2.5-cM region and report two missense mutations (Leu129Phe and Val162Met) in the small GTP-ase late endosomal protein RAB7 which...
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