Ontology highlight
ABSTRACT:
SUBMITTER: Verhoeven K
PROVIDER: S-EPMC1180247 | biostudies-literature | 2003 Mar
REPOSITORIES: biostudies-literature
Verhoeven Kristien K De Jonghe Peter P Coen Katrien K Verpoorten Nathalie N Auer-Grumbach Michaela M Kwon Jennifer M JM FitzPatrick David D Schmedding Eric E De Vriendt Els E Jacobs An A Van Gerwen Veerle V Wagner Klaus K Hartung Hans-Peter HP Timmerman Vincent V
American journal of human genetics 20030121 3
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 causes the CMT2B phenotype in three extended families and in three patients with a po ...[more]