- Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy
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Park J, Hyun YS, Kim YJ, Nam SH, Kim SH, Hong YB, Park JM, Chung KW, Choi BO
- KMID: 1980550
- J Clin Neurol.
- 2013 Oct;9(4):283-288.
- doi: 10.3988/jcn.2013.9.4.283
BACKGROUND: X-linked Charcot-Marie-Tooth disease type 5 (CMTX5) is caused by mutations in the gene encoding phosphoribosyl pyrophosphate synthetase I (PRPS1). There has been only one case report of CMTX5 patients.... -
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