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)
American Journal of Human Genetics
|
Xq22-q24 GeneReviews Google OMIM Orphanet PubMed Who named it? [Charcot-Marie-Tooth disease] Charcot-Marie-Tooth disease, X-linked recessive 5 *Gene map locus Xq22-q24 CMTX5 Charcot-Marie-Tooth neuropathy, X-linked recessive, 5 Optic atrophy, polyneuropathy, and deafness Rosenberg-Chutorian syndrome [Clinical features: optic atrophy; deafness; polyneuropathy] [Inheritance: X-linked recessive] |
 |
||
|
Edited by Aldo Campana,
August 21, 2012
|
||
