X-linked Charcot-Marie-Tooth disease type 5

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Kim HJ et al. (2007) 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).

Park J et al. (2013) Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

Robusto M et al. (2015) The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

Rosenberg RN et al. (1967) Familial opticoacoustic nerve degeneration and polyneuropathy.

None (1984) Sensorineural deafness and peripheral neuropathy.

Kim HJ et al. (2005) A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

OMIM.ORG article

Orphanet article