Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22
Tài liệu tham khảo
Gabreëls-Festen, 1994, The status of HMSN type III, Neuromusc Disord, 4, 63, 10.1016/0960-8966(94)90049-3
De Jonghe, 1997, Charcot-Marie-Tooth disease and related peripheral neuropathies, J Periph Nerv Syst, 2, 370
Warner, 1996, Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type1B, Dejerine–Sottas, and congenital hypomyelination, Neuron, 17, 451, 10.1016/S0896-6273(00)80177-4
Warner, 1998, Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies, Nat Genet, 18, 382, 10.1038/ng0498-382
Roa, 1993, Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene, N Engl J Med, 329, 96, 10.1056/NEJM199307083290205
Suter, 1995, Peripheral myelin protein 22: facts and hypotheses, J Neurosci Res, 40, 145, 10.1002/jnr.490400202
Martini, 1997, Molecular bases of myelin formation as revealed by investigation on mice deficient in glial cell surface molecules, Glia, 19, 298, 10.1002/(SICI)1098-1136(199704)19:4<298::AID-GLIA3>3.0.CO;2-U
Marques, 1998, Dejerine–Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible `hot spot' on Ser72, Ann Neurol, 43, 680, 10.1002/ana.410430521
Tyson, 1997, Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome, Brain, 120, 47, 10.1093/brain/120.1.47