| 1 | CMT4E, EGR2 |
| Homozygous deletion of an EGR2 enhancer in congenital amyelinating neuropathy. | |
| Funalot B, Topilko P, Arroyo MA, Sefiani A, Hedley-Whyte ET, Yoldi ME, Richard L, Touraille E, Laurichesse M, Khalifa E, Chauzeix J, Ouedraogo A, Cros D, Magdelaine C, Sturtz FG, Urtizberea JA, Charnay P, Bragado FG, Vallat JM. | |
| Ann Neurol 71(5):719-23. doi: 10.1002/ana.23527. 2012 | |
| 2 | CMT1D, EGR2, CMT4E |
| Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. | |
| Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR. | |
| Nat Genet 18(4):382-4. 1998 | |