Biopsy in a patient with PMP22 exon 2 mutation recapitulates pathology of Trembler-J mouse

Baets, 2011, Genetic spectrum of hereditary neuropathies with onset in the first year of life, Brain, 134, 2664, 10.1093/brain/awr184 Schenone, 2011, Inherited neuropathies, Curr Treat Options Neurol, 13, 160, 10.1007/s11940-011-0115-z Fledrich, 2012, Murine therapeutic models for Charcot-Marie-Tooth (CMT) disease, Br Med Bull, 102, 89, 10.1093/bmb/lds010 Suter, 1992, Trembler mouse carries a point mutation in a myelin gene, Nature, 356, 241, 10.1038/356241a0 Suter, 1992, A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse, Proc Natl Acad Sci USA, 89, 4382, 10.1073/pnas.89.10.4382 Ionasescu, 1997, Dejerine–Sottas neuropathy in mother and son with same point mutation of PMP22 gene, Muscle Nerve, 20, 97, 10.1002/(SICI)1097-4598(199701)20:1<97::AID-MUS13>3.0.CO;2-Z Valentijn, 1992, Identical point mutation of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A, Nature Genet, 2, 288, 10.1038/ng1292-288 Valentijn, 1995, Dejerine–Sottas neuropathy is associated with a de novo PMP22 mutation, Hum Mutat, 5, 76, 10.1002/humu.1380050110 Raeymaekers, 1992, Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMTla). HMSN Collaborative Research Group, J Med Genet, 29, 5, 10.1136/jmg.29.1.5 Nelis, 1996, Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies, Eur J Hum Genet, 4, 329, 10.1159/000472227 Hoogendijk, 1993, Allelic heterogeneity in hereditary motor and sensory neuropathy type Ia (Charcot-Marie-Tooth disease type 1 a), Neurology, 43, 1010, 10.1212/WNL.43.5.1010 Robertson, 1999, Development of early postnatal peripheral nerve abnormalities in Trembler-J and PMP22 transgenic mice, J Anat, 195, 331, 10.1046/j.1469-7580.1999.19530331.x Suh, 1997, An in-frame deletion in peripheral myelin protein-22 gene causes hypomyelination and cell death of the Schwann cells in the new Trembler mutant mouse, Neuroscience, 79, 735, 10.1016/S0306-4522(96)00692-6