Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation

Abrams, 2001, Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease, Brain Res, 900, 9, 10.1016/S0006-8993(00)03327-8 1991, Research criteria for diagnosis of chronic inflammatory demyelinating polyneuropathy (CIDP), Neurology, 41, 617, 10.1212/WNL.41.5.617 Bergoffen, 1993, Connexin mutations in X-linked Charcot-Marie-Tooth disease, Science, 262, 2039, 10.1126/science.8266101 Birouk, 1998, X-linked Charcot-Marie-Tooth disease with connexin 32 mutations. Clinical and electrophysiologic study, Neurology, 50, 1074, 10.1212/WNL.50.4.1074 Deschenes, 1997, Altered trafficking of mutant connexin 32, J Neurosci, 17, 9077, 10.1523/JNEUROSCI.17-23-09077.1997 Dubourg, 2001, Clinical, electrophysiological and molecular genetic characteristic of 93 patients with X-linked Charcot Marie Tooth disease, Brain, 124, 1958, 10.1093/brain/124.10.1958 Dyck, 1968, Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary neuropathies, Arch Neurol, 18, 603, 10.1001/archneur.1968.00470360025002 Dyck, 1993, Pathologic alteration of nerves, 514 Fabrizi, 2001, A somatic and germline mosaic mutation in MPZ/P0 mimics recessive inheritance of CMT1B, Neurology, 57, 101, 10.1212/WNL.57.1.101 Fairweather, 1994, Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease, Hum Mol Genet, 3, 29, 10.1093/hmg/3.1.29 Gutierrez, 2000, Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease, Muscle Nerve, 23, 182, 10.1002/(SICI)1097-4598(200002)23:2<182::AID-MUS6>3.0.CO;2-W Hahn, 1999, Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease, Ann N Y Acad Sci, 883, 366, 10.1111/j.1749-6632.1999.tb08598.x Haites, 1998, Third workshop of the European CMT consortium: 54th ENMC international workshop on genotype/phenotype correlations in Charcot-Marie-Tooth type 1 and hereditary neuropathy with liability to pressure palsies, Neuromuscul Disord, 8, 591, 10.1016/S0960-8966(98)00067-4 Jacobs, 1985, Qualitative and quantitative morphology of human sural nerve at different ages, Brain, 108, 897, 10.1093/brain/108.4.897 Kaku, 1993, Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1, Neurology, 43, 2664, 10.1212/WNL.43.12.2664 Kumar, 1986, Cloning and characterization of human and rat liver cDNAs coding for a gap junction protein, J Cell Biol, 103, 767, 10.1083/jcb.103.3.767 Lewis, 1982, The electrodiagnostic distinctions between chronic familial and acquired demyelinative neuropathies, Neurology, 32, 592, 10.1212/WNL.32.6.592 Lupski, 1991, DNA duplication associated with Charcot-Marie-Tooth disease type 1A, Cell, 66, 219, 10.1016/0092-8674(91)90613-4 Nicholson, 1993, Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families, Neurology, 43, 2558, 10.1212/WNL.43.12.2558 Oh, 1994, What is the best diagnostic index of conduction block and temporal dispersion?, Muscle Nerve, 17, 489, 10.1002/mus.880170504 Reilly, 1998, Genetically determined neuropathies, J Neurol, 245, 6, 10.1007/s004150050167 Sander, 1998, Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1), Muscle Nerve, 21, 217, 10.1002/(SICI)1097-4598(199802)21:2<217::AID-MUS9>3.0.CO;2-E Scherer, 1995, Connexin 32 is a myelin related protein in the PNS and CNS, J Neurosci, 15, 8281, 10.1523/JNEUROSCI.15-12-08281.1995 Senderek, 1999, X-linked dominant Charcot-Marie-Tooth neuropathy: clinical electrophysiological, and morphological phenotype in four families with different connxin32 mutations, J Neurol Sci, 167, 90, 10.1016/S0022-510X(99)00146-X Tabaraud, 1999, Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings, Muscle Nerve, 22, 1442, 10.1002/(SICI)1097-4598(199910)22:10<1442::AID-MUS16>3.0.CO;2-6 Uncini, 1993, Sensitivity and specificity of diagnostic criteria for conduction block in chronic inflammatory demyelinating polyneuropathy, Electroenceph clin Neurophysiol, 89, 161, 10.1016/0168-5597(93)90129-D Uncini, 1995, Differential electrophysiological features of neuropathies associated with 17p11.2 deletion and duplication, Muscle Nerve, 18, 628, 10.1002/mus.880180610