Disease: Rosenberg Chutorian syndrome
- A Novel PRPS1 Mutation in a Japanese Patient with CMTX5
- Charcot-Marie-Tooth Neuropathy X Type 5 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
- Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)
- New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient
- Optic atrophy, sensorineural hearing loss and polyneuropathy--a case of sporadic Rosenberg-Chutorian syndrome