CMTX5 in Japanese Patient Linked to New PRPS1 Gene Mutation

CMTX5 in Japanese Patient Linked to New PRPS1 Gene Mutation

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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 brain and spinal cord — yet with a lesser reduction in the activity of the affected PRPS1 protein, compared with other cases. The study, “A Novel…

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