Charcot-Marie-Tooth disease type 5 is an x-linked recessive disorder caused by mutations of the PRPS1 gene.
1. |
Synofzik M et al. (2014) X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. |
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Almoguera B et al. (2014) Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy. |
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Park J et al. (2013) Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy. |
5. |
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. |
6. |
Rosenberg RN et al. (1967) Familial opticoacoustic nerve degeneration and polyneuropathy. |
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None (1984) Sensorineural deafness and peripheral neuropathy. |
8. |
Kim HJ et al. (2005) A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24. |
9. |
OMIM.ORG article Omim 311070 |
10. |
Orphanet article Orphanet ID 99014 |