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Charcot-Marie-Tooth type 2B disease

CMT2B

 
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.

Pathology

-  mutations in the small GTP-ase late endosomal protein RAB7 (#12545426#)


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