메뉴 건너뛰기




Volumn 27, Issue 1, 2011, Pages 67-73

Clinical implications of peripheral myelin protein 22 for nerve compression and neural regeneration: A review

Author keywords

Charcot Marie Tooth disease; hereditary neuropathy with liability to pressure palsies; neurolysis; Peripheral myelin protein 22

Indexed keywords

PERIPHERAL MYELIN PROTEIN 22;

EID: 78650783207     PISSN: 0743684X     EISSN: 10988947     Source Type: Journal    
DOI: 10.1055/s-0030-1267832     Document Type: Review
Times cited : (7)

References (54)
  • 1
    • 0026519132 scopus 로고
    • Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)
    • Snipes G J., Suter U, Welcher A A., Shooter E M. Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J Cell Biol 1992 117 225-238
    • (1992) J Cell Biol , vol.117 , pp. 225-238
    • Snipes, G.J.1    Suter, U.2    Welcher, A.A.3    Shooter, E.M.4
  • 2
    • 0027459799 scopus 로고
    • Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system
    • Suter U, Welcher A A., Snipes G J. Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system. Trends Neurosci 1993 16 50-56
    • (1993) Trends Neurosci , vol.16 , pp. 50-56
    • Suter, U.1    Welcher, A.A.2    Snipes, G.J.3
  • 3
    • 0028793694 scopus 로고
    • Epithelial membrane protein-1, peripheral myelin protein 22, and lens membrane protein 20 define a novel gene family
    • Taylor V, Welcher A A., Program A E., Suter U. Epithelial membrane protein-1, peripheral myelin protein 22, and lens membrane protein 20 define a novel gene family. J Biol Chem 1995 270 28824-28833
    • (1995) J Biol Chem , vol.270 , pp. 28824-28833
    • Taylor, V.1    Welcher, A.A.2    Program, A.E.3    Suter, U.4
  • 4
    • 0141833983 scopus 로고    scopus 로고
    • Disease mechanisms in inherited neuropathies
    • Suter U, Scherer S S. Disease mechanisms in inherited neuropathies. Nat Rev Neurosci 2003 4 714-726
    • (2003) Nat Rev Neurosci , vol.4 , pp. 714-726
    • Suter, U.1    Scherer, S.S.2
  • 5
    • 0027196844 scopus 로고
    • Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells
    • Pareek S, Suter U, Snipes G J., Welcher A A., Shooter E M., Murphy R A. Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells. J Biol Chem 1993 268 10372-10379
    • (1993) J Biol Chem , vol.268 , pp. 10372-10379
    • Pareek, S.1    Suter, U.2    Snipes, G.J.3    Welcher, A.A.4    Shooter, E.M.5    Murphy, R.A.6
  • 6
    • 0026879614 scopus 로고
    • The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
    • Patel P I., Roa B B., Welcher A A. et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet 1992 1 159-165
    • (1992) Nat Genet , vol.1 , pp. 159-165
    • Patel, P.I.1    Roa, B.B.2    Welcher, A.A.3
  • 7
    • 33746303679 scopus 로고    scopus 로고
    • Peripheral myelin protein 22 is expressed in human central nervous system
    • Ohsawa Y, Murakami T, Miyazaki Y, Shirabe T, Sunada Y. Peripheral myelin protein 22 is expressed in human central nervous system. J Neurol Sci 2006 247 11-15
    • (2006) J Neurol Sci , vol.247 , pp. 11-15
    • Ohsawa, Y.1    Murakami, T.2    Miyazaki, Y.3    Shirabe, T.4    Sunada, Y.5
  • 8
    • 0029075810 scopus 로고
    • Peripheral myelin protein-22 is expressed in rat and mouse brain and spinal cord motoneurons
    • Parmantier E, Cabon F, Braun C, D'Urso D, Müller H W., Zalc B. Peripheral myelin protein-22 is expressed in rat and mouse brain and spinal cord motoneurons. Eur J Neurosci 1995 7 1080-1088
    • (1995) Eur J Neurosci , vol.7 , pp. 1080-1088
    • Parmantier, E.1    Cabon, F.2    Braun, C.3    D'Urso, D.4    Müller, H.W.5    Zalc, B.6
  • 9
    • 28944439351 scopus 로고    scopus 로고
    • Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: Description of a large family with this association
    • Sanahuja J, Franco E, Rojas-García R et al. Central nervous system involvement in hereditary neuropathy with liability to pressure palsies: description of a large family with this association. Arch Neurol 2005 62 1911-1914
    • (2005) Arch Neurol , vol.62 , pp. 1911-1914
    • Sanahuja, J.1    Franco, E.2    Rojas-García, R.3
  • 10
    • 33845934126 scopus 로고    scopus 로고
    • CNS involvement in hereditary neuropathy with pressure palsies (HNPP)
    • Tackenberg B, Möller J C., Rindock H et al. CNS involvement in hereditary neuropathy with pressure palsies (HNPP). Neurology 2006 67 2250-2252
    • (2006) Neurology , vol.67 , pp. 2250-2252
    • Tackenberg, B.1    Möller, J.C.2    Rindock, H.3
  • 11
    • 0029920983 scopus 로고    scopus 로고
    • Hereditary neuropathy with liability to pressure palsies: Association with central nervous system demyelination
    • Amato A A., Barohn R J. Hereditary neuropathy with liability to pressure palsies: association with central nervous system demyelination. Muscle Nerve 1996 19 770-773
    • (1996) Muscle Nerve , vol.19 , pp. 770-773
    • Amato, A.A.1    Barohn, R.J.2
  • 12
    • 0035553640 scopus 로고    scopus 로고
    • Hereditary neuropathy with liability to pressure palsies associated with central nervous system myelin lesions
    • Dackovi J, Rakocevi-Stojanovi V, Pavlovi S et al. Hereditary neuropathy with liability to pressure palsies associated with central nervous system myelin lesions. Eur J Neurol 2001 8 689-692
    • (2001) Eur J Neurol , vol.8 , pp. 689-692
    • Dackovi, J.1    Rakocevi-Stojanovi, V.2    Pavlovi, S.3
  • 13
    • 0034026237 scopus 로고    scopus 로고
    • Involvement of the visual pathway in hereditary neuropathy with liability to pressure palsies
    • Schneider C, Reiners K, Friedl W, Ebner R, Toyka K V. Involvement of the visual pathway in hereditary neuropathy with liability to pressure palsies. J Neurol 2000 247 222-223
    • (2000) J Neurol , vol.247 , pp. 222-223
    • Schneider, C.1    Reiners, K.2    Friedl, W.3    Ebner, R.4    Toyka, K.V.5
  • 14
    • 0032103882 scopus 로고    scopus 로고
    • Many facets of the peripheral myelin protein PMP22 in myelination and disease
    • Naef R, Suter U. Many facets of the peripheral myelin protein PMP22 in myelination and disease. Microsc Res Tech 1998 41 359-371
    • (1998) Microsc Res Tech , vol.41 , pp. 359-371
    • Naef, R.1    Suter, U.2
  • 16
    • 0028231331 scopus 로고
    • Charcot-Marie-Tooth disease: A new paradigm for the mechanism of inherited disease
    • Patel P I., Lupski J R. Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet 1994 10 128-133
    • (1994) Trends Genet , vol.10 , pp. 128-133
    • Patel, P.I.1    Lupski, J.R.2
  • 17
    • 0028339044 scopus 로고
    • A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies
    • Nicholson G A., Valentijn L J., Cherryson A K. et al. A frame shift mutation in the PMP22 gene in hereditary neuropathy with liability to pressure palsies. Nat Genet 1994 6 263-266
    • (1994) Nat Genet , vol.6 , pp. 263-266
    • Nicholson, G.A.1    Valentijn, L.J.2    Cherryson, A.K.3
  • 18
    • 30344448848 scopus 로고    scopus 로고
    • Double trouble in hereditary neuropathy: Concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes
    • Hodapp J A., Carter G T., Lipe H P., Michelson S J., Kraft G H., Bird T D. Double trouble in hereditary neuropathy: concomitant mutations in the PMP-22 gene and another gene produce novel phenotypes. Arch Neurol 2006 63 112-117
    • (2006) Arch Neurol , vol.63 , pp. 112-117
    • Hodapp, J.A.1    Carter, G.T.2    Lipe, H.P.3    Michelson, S.J.4    Kraft, G.H.5    Bird, T.D.6
  • 19
    • 0028950408 scopus 로고
    • Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: Modulation of cell growth
    • Zoidl G, Blass-Kampmann S, D'Urso D, Schmalenbach C, Müller H W. Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth. EMBO J 1995 14 1122-1128
    • (1995) EMBO J , vol.14 , pp. 1122-1128
    • Zoidl, G.1    Blass-Kampmann, S.2    D'Urso, D.3    Schmalenbach, C.4    Müller, H.W.5
  • 20
    • 0029159803 scopus 로고
    • Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: Its relation to the demyelinating peripheral neuropathy CMT1A
    • Fabbretti E, Edomi P, Brancolini C, Schneider C. Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A. Genes Dev 1995 9 1846-1856
    • (1995) Genes Dev , vol.9 , pp. 1846-1856
    • Fabbretti, E.1    Edomi, P.2    Brancolini, C.3    Schneider, C.4
  • 21
    • 0029931697 scopus 로고    scopus 로고
    • Ultrastructural PMP22 expression in inherited demyelinating neuropathies
    • Vallat J M., Sindou P, Preux P M. et al. Ultrastructural PMP22 expression in inherited demyelinating neuropathies. Ann Neurol 1996 39 813-817
    • (1996) Ann Neurol , vol.39 , pp. 813-817
    • Vallat, J.M.1    Sindou, P.2    Preux, P.M.3
  • 22
    • 0031783172 scopus 로고    scopus 로고
    • A novel PMP22 point mutation causing HNPP phenotype: Studies on nerve xenografts
    • Sahenk Z, Chen L, Freimer M. A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts. Neurology 1998 51 702-707
    • (1998) Neurology , vol.51 , pp. 702-707
    • Sahenk, Z.1    Chen, L.2    Freimer, M.3
  • 23
    • 0031004203 scopus 로고    scopus 로고
    • Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: Implications for testing in the cytogenetics laboratory
    • Shaffer L G., Kennedy G M., Spikes A S., Lupski J R. Diagnosis of CMT1A duplications and HNPP deletions by interphase FISH: implications for testing in the cytogenetics laboratory. Am J Med Genet 1997 69 325-331
    • (1997) Am J Med Genet , vol.69 , pp. 325-331
    • Shaffer, L.G.1    Kennedy, G.M.2    Spikes, A.S.3    Lupski, J.R.4
  • 24
    • 0027972378 scopus 로고
    • Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17
    • Chance P F., Abbas N, Lensch M W. et al. Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17. Hum Mol Genet 1994 3 223-228
    • (1994) Hum Mol Genet , vol.3 , pp. 223-228
    • Chance, P.F.1    Abbas, N.2    Lensch, M.W.3
  • 25
    • 0032948050 scopus 로고    scopus 로고
    • Effects of PMP22 duplication and deletions on the axonal cytoskeleton
    • Sahenk Z, Chen L, Mendell J R. Effects of PMP22 duplication and deletions on the axonal cytoskeleton. Ann Neurol 1999 45 16-24
    • (1999) Ann Neurol , vol.45 , pp. 16-24
    • Sahenk, Z.1    Chen, L.2    Mendell, J.R.3
  • 26
    • 0027025971 scopus 로고
    • An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A
    • Lupski J R. An inherited DNA rearrangement and gene dosage effect are responsible for the most common autosomal dominant peripheral neuropathy: Charcot-Marie-Tooth disease type 1A. Clin Res 1992 40 645-652
    • (1992) Clin Res , vol.40 , pp. 645-652
    • Lupski, J.R.1
  • 27
    • 0033052219 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth polyneuropathy: Duplication, gene dosage, and genetic heterogeneity
    • Lupski J R. Charcot-Marie-Tooth polyneuropathy: duplication, gene dosage, and genetic heterogeneity. Pediatr Res 1999 45 159-165
    • (1999) Pediatr Res , vol.45 , pp. 159-165
    • Lupski, J.R.1
  • 30
    • 34447263764 scopus 로고    scopus 로고
    • Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies
    • Li J, Ghandour K, Radovanovic D et al. Stoichiometric alteration of PMP22 protein determines the phenotype of hereditary neuropathy with liability to pressure palsies. Arch Neurol 2007 64 974-978
    • (2007) Arch Neurol , vol.64 , pp. 974-978
    • Li, J.1    Ghandour, K.2    Radovanovic, D.3
  • 32
    • 0029399637 scopus 로고
    • Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion
    • Gouider R, LeGuern E, Gugenheim M et al. Clinical, electrophysiologic, and molecular correlations in 13 families with hereditary neuropathy with liability to pressure palsies and a chromosome 17p11.2 deletion. Neurology 1995 45 2018-2023
    • (1995) Neurology , vol.45 , pp. 2018-2023
    • Gouider, R.1    Leguern, E.2    Gugenheim, M.3
  • 33
    • 0028018240 scopus 로고
    • Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies
    • Mariman E C., Gabreëls-Festen A A., van Beersum S E. et al. Prevalence of the 1.5-Mb 17p deletion in families with hereditary neuropathy with liability to pressure palsies. Ann Neurol 1994 36 650-655
    • (1994) Ann Neurol , vol.36 , pp. 650-655
    • Mariman, E.C.1    Gabreëls-Festen, A.A.2    Van Beersum, S.E.3
  • 34
    • 0034100295 scopus 로고    scopus 로고
    • Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A
    • Hanemann C O., D'Urso D, Gabreëls-Festen A A., Müller H W. Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A. Brain 2000 123 Pt 5 1001-1006
    • (2000) Brain , vol.123 , Issue.PART 5 , pp. 1001-1006
    • Hanemann, C.O.1    D'Urso, D.2    Gabreëls-Festen, A.A.3    Müller, H.W.4
  • 35
    • 0033594507 scopus 로고    scopus 로고
    • Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion
    • Mouton P, Tardieu S, Gouider R et al. Spectrum of clinical and electrophysiologic features in HNPP patients with the 17p11.2 deletion. Neurology 1999 52 1440-1446
    • (1999) Neurology , vol.52 , pp. 1440-1446
    • Mouton, P.1    Tardieu, S.2    Gouider, R.3
  • 36
    • 34147204967 scopus 로고    scopus 로고
    • Sorting out the inherited neuropathies
    • Reilly M M. Sorting out the inherited neuropathies. Pract Neurol 2007 7 93-105
    • (2007) Pract Neurol , vol.7 , pp. 93-105
    • Reilly, M.M.1
  • 37
    • 47049114271 scopus 로고    scopus 로고
    • Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP): A rare cause of entrapment neuropathies in young adults
    • Celik Y, Kilinçer C, Hamamciolu M K. et al. Hereditary neuropathy with liability to pressure palsies in a Turkish patient (HNPP): a rare cause of entrapment neuropathies in young adults. Turk Neurosurg 2008 18 82-84
    • (2008) Turk Neurosurg , vol.18 , pp. 82-84
    • Celik, Y.1    Kilinçer, C.2    Hamamciolu, M.K.3
  • 38
  • 39
    • 21044457652 scopus 로고    scopus 로고
    • Skin biopsies in myelin-related neuropathies: Bringing molecular pathology to the bedside
    • Li J, Bai Y, Ghandour K et al. Skin biopsies in myelin-related neuropathies: bringing molecular pathology to the bedside. Brain 2005 128 (Pt 5) 1168-1177
    • (2005) Brain , vol.128 , Issue.PART 5 , pp. 1168-1177
    • Li, J.1    Bai, Y.2    Ghandour, K.3
  • 40
    • 33750564961 scopus 로고    scopus 로고
    • Current concepts review: Orthopaedic aspects of Charcot-Marie-Tooth disease
    • Guyton G P. Current concepts review: orthopaedic aspects of Charcot-Marie-Tooth disease. Foot Ankle Int 2006 27 1003-1010
    • (2006) Foot Ankle Int , vol.27 , pp. 1003-1010
    • Guyton, G.P.1
  • 41
    • 0026879615 scopus 로고
    • The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication
    • Timmerman V, Nelis E, Van Hul W et al. The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication. Nat Genet 1992 1 171-175
    • (1992) Nat Genet , vol.1 , pp. 171-175
    • Timmerman, V.1    Nelis, E.2    Van Hul, W.3
  • 42
    • 0032125441 scopus 로고    scopus 로고
    • Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy
    • Hanemann C O., Müller H W. Pathogenesis of Charcot-Marie-Tooth 1A (CMT1A) neuropathy. Trends Neurosci 1998 21 282-286
    • (1998) Trends Neurosci , vol.21 , pp. 282-286
    • Hanemann, C.O.1    Müller, H.W.2
  • 43
    • 0028230766 scopus 로고
    • Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies
    • Hanemann C O., Stoll G, D'Urso D et al. Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies. J Neurosci Res 1994 37 654-659
    • (1994) J Neurosci Res , vol.37 , pp. 654-659
    • Hanemann, C.O.1    Stoll, G.2    D'Urso, D.3
  • 44
    • 0037432064 scopus 로고    scopus 로고
    • Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene
    • Sambuughin N, de Bantel A, McWilliams S, Sivakumar K. Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene. Neurology 2003 60 506-508
    • (2003) Neurology , vol.60 , pp. 506-508
    • Sambuughin, N.1    De Bantel, A.2    McWilliams, S.3    Sivakumar, K.4
  • 45
    • 48949116316 scopus 로고    scopus 로고
    • Relationship between clinical examination, quality of life, disability and depression in CMT patients: Italian multicenter study
    • Italian CMT QoL Study Group
    • Padua L, Aprile I, Cavallaro T et al, Italian CMT QoL Study Group. Relationship between clinical examination, quality of life, disability and depression in CMT patients: Italian multicenter study. Neurol Sci 2008 29 157-162
    • (2008) Neurol Sci , vol.29 , pp. 157-162
    • Padua, L.1    Aprile, I.2    Cavallaro, T.3
  • 46
    • 48949116319 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth and pain: Correlations with neurophysiological, clinical, and disability findings
    • Italian CMT QoL Study Group
    • Padua L, Cavallaro T, Pareyson D, Quattrone A, Vita G, Schenone A, Italian CMT QoL Study Group. Charcot-Marie-Tooth and pain: correlations with neurophysiological, clinical, and disability findings. Neurol Sci 2008 29 193-194
    • (2008) Neurol Sci , vol.29 , pp. 193-194
    • Padua, L.1    Cavallaro, T.2    Pareyson, D.3    Quattrone, A.4    Vita, G.5    Schenone, A.6
  • 47
    • 40849092774 scopus 로고    scopus 로고
    • Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A
    • Padua L, Shy M E., Aprile I et al. Correlation between clinical/neurophysiological findings and quality of life in Charcot-Marie-Tooth type 1A. J Peripher Nerv Syst 2008 13 64-70
    • (2008) J Peripher Nerv Syst , vol.13 , pp. 64-70
    • Padua, L.1    Shy, M.E.2    Aprile, I.3
  • 48
    • 0029908245 scopus 로고    scopus 로고
    • Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A
    • Nishimura T, Yoshikawa H, Fujimura H, Sakoda S, Yanagihara T. Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A. Acta Neuropathol 1996 92 454-460
    • (1996) Acta Neuropathol , vol.92 , pp. 454-460
    • Nishimura, T.1    Yoshikawa, H.2    Fujimura, H.3    Sakoda, S.4    Yanagihara, T.5
  • 49
    • 0027422165 scopus 로고
    • De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
    • Hayasaka K, Himoro M, Sawaishi Y et al. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet 1993 5 266-268
    • (1993) Nat Genet , vol.5 , pp. 266-268
    • Hayasaka, K.1    Himoro, M.2    Sawaishi, Y.3
  • 50
    • 0031924091 scopus 로고    scopus 로고
    • Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease
    • Ikegami T, Ikeda H, Aoyama M et al. Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease. Hum Genet 1998 102 294-298
    • (1998) Hum Genet , vol.102 , pp. 294-298
    • Ikegami, T.1    Ikeda, H.2    Aoyama, M.3
  • 51
    • 0029880857 scopus 로고    scopus 로고
    • A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
    • Ikegami T, Nicholson G, Ikeda H et al. A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Biochem Biophys Res Commun 1996 222 107-110
    • (1996) Biochem Biophys Res Commun , vol.222 , pp. 107-110
    • Ikegami, T.1    Nicholson, G.2    Ikeda, H.3
  • 52
    • 0031984943 scopus 로고    scopus 로고
    • De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118
    • Ikegami T, Nicholson G, Ikeda H et al. De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118. Hum Mutat 1998 S103-S105
    • (1998) Hum Mutat
    • Ikegami, T.1    Nicholson, G.2    Ikeda, H.3
  • 53
    • 0027486810 scopus 로고
    • Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
    • Roa B B., Dyck P J., Marks H G., Chance P F., Lupski J R. Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 1993 5 269-273
    • (1993) Nat Genet , vol.5 , pp. 269-273
    • Roa, B.B.1    Dyck, P.J.2    Marks, H.G.3    Chance, P.F.4    Lupski, J.R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.