A novel point mutation in PMP22 gene in an Italian family with hereditary neuropathy with liability to pressure palsies

Stogbauer, 2000, Hereditary recurrent focal neuropathies: clinical and molecular features, Neurology, 54, 546, 10.1212/WNL.54.3.546 Chance, 1993, DNA deletion associated with hereditary neuropathy with liability to pressure palsies, Cell, 15, 143, 10.1016/0092-8674(93)90058-X Inoue, 2001, The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes, Genome Res, 11, 1018, 10.1101/gr.180401 Chapon, 1996, Hereditary neuropathy with liability to pressure palsies with a partial deletion of the region often duplicated in Charcot–Marie–Tooth disease, type 1A, J Neurol Neurosurg Psychiatry, 61, 535, 10.1136/jnnp.61.5.535 Nadal, 2000, Hereditary neuropathy with liability to pressure palsies: two cases with a reciprocal translocation t(16;17)(q12;11.2) interrupting the PMP22 gene, J Med Genet, 37, 396, 10.1136/jmg.37.5.396 Van de Wetering, 2002, Hereditary neuropathy with liability to pressure palsies with a small deletion interrupting the PMP22 gene, Neuromuscul Disord, 12, 651, 10.1016/S0960-8966(02)00025-1 Matejas, 2006, Identification of Alu elements mediating a partial PMP22 deletion, Neurogenetics, 7, 119, 10.1007/s10048-006-0030-8 Sanders, 2001, Mutations of peripheral myelin protein 22 result in defective trafficking through mechanisms which may be common to diseases involving tetraspan membrane proteins, Biochemistry, 40, 9453, 10.1021/bi010894f Lenssen, 1998, Hereditary neuropathy with liability to pressure palsies. Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation, Brain, 121, 1451, 10.1093/brain/121.8.1451 Nicholson, 1994, A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies, Nat Genet, 6, 263, 10.1038/ng0394-263 Inoue, 2004, Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations, Nat Genet, 36, 361, 10.1038/ng1322