| 1 | CMT1D, EGR2
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| Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
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| Szigeti K, Wiszniewski W, Saifi GM, Sherman DL, Sule N, Adesina AM, Mancias P, Papasozomenos SCh, Miller G, Keppen L, Daentl D, Brophy PJ, Lupski JR.
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| Neurogenetics 8(4):257-62. Epub 2007 Aug 24.
2007
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| 2 | CMT1D, EGR2
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| Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.
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| Song S, Zhang Y, Chen B, Zhang Y, Wang M, Wang Y, Yan M, Zou J, Huang Y, Zhong N.
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| Genet Med 8(8):532-5.
2006
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| 3 | CMT1D, EGR2
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| Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis.
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| Mikesová E, Hühne K, Rautenstrauss B, Mazanec R, Baránková L, Vyhnálek M, Horácek O, Seeman P.
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| Neuromuscul Disord 15(11):764-7. Epub 2005 Sep 29.
2005
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| 4 | EGR2, CMT1D
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| Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.
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| Warner LE, et al.
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| Hum Mol Genet 8(7):1245-1251. 1999
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| 5 | EGR2, CMT1D
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| Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.
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| Timmerman V, et al.
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| Neurology 52(9):1827-32. 1999
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| 6 | CMT1D, EGR2, CMT4E
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| Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
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| Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR.
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| Nat Genet 18(4):382-4. 1998
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