| 1 | CMTX5, PRPS1
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| A novel mutation in PRPS1 gene causes X-linked Charcot-Marie-Tooth disease-5.
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| Meng L, Wang K, Lv H, Wang Z, Zhang W, Yuan Y.
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| Neuropathology europathology. 2019 Aug 21. doi: 10.1111/neup.12589. [Epub ahead of print]
2019
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| 2 | CMTX5, PRPS1
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| A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
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| Agrahari AK, Sneha P, George Priya Doss C, Siva R, Zayed H.
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| Metab Brain Dis 33(2):589-600. doi: 10.1007/s11011-017-0121-2. Epub 2017 Oct 18.
2018
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| 3 | ARTS, CMTX5, DFN2, PRPS1
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| PRPS1 mutations: four distinct syndromes and potential treatment.
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| de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J.
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| Am J Hum Genet 86(4):506-18. Review.PMID: 20380929 2010
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| 4 | CMTX5,PRPS1
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| 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).
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| Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW.
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| Am J Hum Genet 81(3):552-8. Epub 2007 Jun 29. 2007
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| 5 | ARTS, CMTX5, DFN2, PRPS1
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| Arts syndrome is caused by loss-of-function mutations in PRPS1.
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| de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H.
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| Am J Hum Genet 81(3):507-18. Epub 2007 Aug 3.PMID: 17701896 2007
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| 6 | CMTX5
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| A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.
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| Kim HJ, Hong SH, Ki CS, Kim BJ, Shim JS, Cho SH, Park JH, Kim JW.
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| Neurology 64(11):1964-7. 2005
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| 7 | CMTX5
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| Exclusion mapping assigns gene defect causing Charcot-Marie-Tooth syndrome, optic atrophy and nerve deafness to distal Xq.
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| Ropers HH, et al.
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| Am J Hum Genet 47 : A197. 1990
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| 8 | CMTX1, CMTX5
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| Genetic linkage of X-linked Charcot-Marie-Tooth neuropathy.
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| Ionasescu V, et al.
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| Am J Hum Genet 45 : A143. 1989
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| 9 | CMTX5
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| Sensorineural deafness and peripheral neuropathy.
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| Pauli RM.
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| Clin Genet 26 : 383-384. 1984
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| 10 | CMTX5
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| Optic atrophy, neural deafness, and distal neurogenic myotrophy.
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| Iwashita H, et al.
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| Arch Neurol 22 : 357-364. 1970
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| 11 | CMTX5
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| Familial opticoacoustic nerve degeneration and polyneuropathy.
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| Rosenberg RN, et al.
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| Neurology 17 : 827-832. 1967
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