CMTX5 in Japanese Patient Linked to New PRPS1 Gene Mutation
A Japanese man was found to have a new mutation in the PRPS1 gene, which caused Charcot-Marie-Tooth disease type X- 5 (CMTX5), according to a recent case study. The patient showed the classic symptoms of CMTX5, such as deafness and damage to multiple peripheral nerves — those outside the…