Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family

Neuromuscular Disorders - Tập 18 - Trang 59-62 - 2008
Liesbeth S. Smit1,2, Daniella Roofthooft2, Fred van Ruissen3, Frank Baas3, Pieter A. van Doorn4
1Department of Pediatric Neurology, Erasmus MC-Sophia Children’s Hospital, Dr. Molewaterplein 60, P.O. Box 2060, 3000 CB Rotterdam, The Netherlands
2Department of Pediatrics, Division of Neonatology, Erasmus MC-Sophia Children’s Hospital, Dr. Molewaterplein 60, P.O. Box 2060, 3000 CB Rotterdam, The Netherlands
3Department of Neurogenetics, Academic Medical Center, Amsterdam, The Netherlands
4Department of Neurology, Erasmus MC, Rotterdam, The Netherlands

Tài liệu tham khảo

Boylan, 1992, Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita, Ann Neurol, 31, 337, 10.1002/ana.410310318 Phillips, 1999, Congenital hypomyelinating neuropathy: two patients with long-term follow-up, Pediatr Neurol, 20, 226, 10.1016/S0887-8994(98)00138-6 Nara, 1995, Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy, J Neurol Sci, 129, 170, 10.1016/0022-510X(94)00272-P Harati, 1985, Congenital hypomyelinating neuropathy, J Neurol Neurosurg Psychiatry, 48, 1269, 10.1136/jnnp.48.12.1269 Garcia, 2000, Peripheral motor and sensory nerve conduction studies in normal infants and children, Clin Neurophysiol, 111, 513, 10.1016/S1388-2457(99)00279-5 Lemke, 1988, Isolation and analysis of the gene encoding peripheral myelin protein zero, Neuron, 1, 73, 10.1016/0896-6273(88)90211-5 Choe, 1996, Packing of myelin protein zero, Neuron, 17, 363, 10.1016/S0896-6273(00)80167-1 Warner, 1996, Clinical phenotypes of different MPZ (P0) mutations may include Charcot–Marie-Tooth type 1B, Dejerine–Sottas, and congenital hypomyelination, Neuron, 17, 451, 10.1016/S0896-6273(00)80177-4 Szigeti, 2003, Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation, Ann Neurol, 54, 398, 10.1002/ana.10681 Mandich, 1999, Congenital hypomyelination due to myelin protein zero Q215X mutation, Ann Neurol, 45, 676, 10.1002/1531-8249(199905)45:5<676::AID-ANA21>3.0.CO;2-K Shy, 2004, Phenotypic clustering in MPZ mutations, Brain, 127, 371, 10.1093/brain/awh048 Eichberg, 2002, Myelin P0: new knowledge and new roles, Neurochemical Res, 27, 1331, 10.1023/A:1021619631869 Xu, 2001, Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination, J Cell Biol, 155, 439, 10.1083/jcb.200107114 Meggouh, 2005, Early onset neuropathy in a compound form of Charcot–Marie-Tooth disease, Ann Neurol, 57, 589, 10.1002/ana.20434 Kochanski, 2004, A novel MPZ gene mutation in congenital neuropathy with hypomyelination, Neurology, 62, 2122, 10.1212/01.WNL.0000127606.93772.3A Warner, 1998, Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies, Nat Genet, 18, 382, 10.1038/ng0498-382 Kasman, 1976, Chronic polyradiculoneuropathy of infancy. A report of three cases with familial incidence, Neurology, 26, 565, 10.1212/WNL.26.6.565 Chandra, 2003, Congenital hypomyelinating neuropathy, Indian Ped, 40, 1084 Balestrini, 1991, Infantile hereditary neuropathy with hypomyelination: report of two siblings with different expressivity, Neuroped, 22, 65, 10.1055/s-2008-1071419