메뉴 건너뛰기




Volumn 50, Issue 5, 1998, Pages 1397-1401

Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene

Author keywords

[No Author keywords available]

Indexed keywords

MYELIN PROTEIN;

EID: 0031842421     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.50.5.1397     Document Type: Article
Times cited : (157)

References (35)
  • 1
    • 0001046663 scopus 로고
    • Hereditary motor and sensory neuropathies
    • Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Philadelphia: W.B. Saunders
    • Dyck PJ, Chance P, Lebo R, Carney JA. Hereditary motor and sensory neuropathies. In: Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF, eds. Peripheral neuropathy. 3rd ed. Philadelphia: W.B. Saunders, 1993:1094-1136.
    • (1993) Peripheral Neuropathy. 3rd Ed. , pp. 1094-1136
    • Dyck, P.J.1    Chance, P.2    Lebo, R.3    Carney, J.A.4
  • 2
    • 0026879615 scopus 로고
    • The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type IA 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 IA 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
  • 3
    • 0027031611 scopus 로고
    • Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A
    • Valentijn LJ, Baas F, Wolterman RA, et al. Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nat Genet 1992;2:288-291.
    • (1992) Nat Genet , vol.2 , pp. 288-291
    • Valentijn, L.J.1    Baas, F.2    Wolterman, R.A.3
  • 4
    • 0027314668 scopus 로고
    • Charcot-Marie-Tooth disease type IA: Association with a spontaneous point mutation in the PMP22 gene
    • Roa BB, Garcia CA, Suter U, et al. Charcot-Marie-Tooth disease type IA: association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 1993;329:96-101.
    • (1993) N Engl J Med , vol.329 , pp. 96-101
    • Roa, B.B.1    Garcia, C.A.2    Suter, U.3
  • 5
    • 0027489565 scopus 로고
    • Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A
    • Roa BB, Garcia CA, Pentao L, et al. Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nat Genet 1993;5:189-194.
    • (1993) Nat Genet , vol.5 , pp. 189-194
    • Roa, B.B.1    Garcia, C.A.2    Pentao, L.3
  • 6
    • 0028207090 scopus 로고
    • Identification of a 5′ splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1
    • Nelis E, Timmerman V, De Jonghe P, Van Broeckhoven C. Identification of a 5′ splice site mutation in the PMP-22 gene in autosomal dominant Charcot-Marie-Tooth disease type 1. Hum Mol Genet 1994;3:515-516.
    • (1994) Hum Mol Genet , vol.3 , pp. 515-516
    • Nelis, E.1    Timmerman, V.2    De Jonghe, P.3    Van Broeckhoven, C.4
  • 7
    • 0030012076 scopus 로고    scopus 로고
    • A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease
    • Navon R, Seifried B, Gal-On NS, Sadeh M. A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease. Hum Genet 1996;97:685-687.
    • (1996) Hum Genet , vol.97 , pp. 685-687
    • Navon, R.1    Seifried, B.2    Gal-On, N.S.3    Sadeh, M.4
  • 8
    • 0031038386 scopus 로고    scopus 로고
    • A novel point mutation in the peripheral myelin protein 22 (PMP 22) gene associated with Charcot-Marie-Tooth disease type 1A
    • Marrosu MG, Vaccargiu S, Marrosu G, Vannelli A, Cianchetti C, Muntoni F. A novel point mutation in the peripheral myelin protein 22 (PMP 22) gene associated with Charcot-Marie-Tooth disease type 1A. Neurology 1997;48:489-493.
    • (1997) Neurology , vol.48 , pp. 489-493
    • Marrosu, M.G.1    Vaccargiu, S.2    Marrosu, G.3    Vannelli, A.4    Cianchetti, C.5    Muntoni, F.6
  • 9
    • 0027221141 scopus 로고
    • Charcot-Marie-Tooth neuropathy type IB is associated with mutations of the myelin P0 gene
    • Hayasaka K, Himoro M, Sato W, et al. Charcot-Marie-Tooth neuropathy type IB is associated with mutations of the myelin P0 gene. Nat Genet 1993;5:31-34.
    • (1993) Nat Genet , vol.5 , pp. 31-34
    • Hayasaka, K.1    Himoro, M.2    Sato, W.3
  • 10
    • 0027338081 scopus 로고
    • Mutation of the myelin PO gene in Charcot-Marie-Tooth neuropathy type IB
    • Hayasaka K, Takada G, Ionasescu W. Mutation of the myelin PO gene in Charcot-Marie-Tooth neuropathy type IB. Hum Mol Genet 1993;9:1369-1372.
    • (1993) Hum Mol Genet , vol.9 , pp. 1369-1372
    • Hayasaka, K.1    Takada, G.2    Ionasescu, W.3
  • 11
    • 0027482858 scopus 로고
    • Myelin protein zero gene mutated in Charcot-Marie-Tooth type IB patients
    • Su Y, Brooks DG, Li L, et al. Myelin protein zero gene mutated in Charcot-Marie-Tooth type IB patients. Proc Natl Acad Sci USA 1993;90:10856-10860.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 10856-10860
    • Su, Y.1    Brooks, D.G.2    Li, L.3
  • 13
    • 0027221142 scopus 로고
    • Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type IB
    • Kulkens T, Bolhuis PA, Wolterman RA, et al. Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type IB. Nat Genet 1993;5:35-39.
    • (1993) Nat Genet , vol.5 , pp. 35-39
    • Kulkens, T.1    Bolhuis, P.A.2    Wolterman, R.A.3
  • 14
    • 0028135130 scopus 로고
    • Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type IB
    • Nelis E, Timmerman V, De Jonghe P, et al. Linkage and mutation analysis in an extended family with Charcot-Marie-Tooth disease type IB. J Med Genet 1994;31:811-815.
    • (1994) J Med Genet , vol.31 , pp. 811-815
    • Nelis, E.1    Timmerman, V.2    De Jonghe, P.3
  • 15
    • 0029619295 scopus 로고
    • Charcot-Marie-Tooth type IB neuropathy: Third mutation of the serine 63 codon in the major peripheral myelin glycoprotein P0 gene
    • Blanquet-Grossard F, Pham-Dinh D, Dautigny A, et al. Charcot-Marie-Tooth type IB neuropathy: third mutation of the serine 63 codon in the major peripheral myelin glycoprotein P0 gene. Clin Genet 1995;48:281-283.
    • (1995) Clin Genet , vol.48 , pp. 281-283
    • Blanquet-Grossard, F.1    Pham-Dinh, D.2    Dautigny, A.3
  • 16
    • 0029863589 scopus 로고    scopus 로고
    • Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: A European collaborative study
    • Nelis E, Van Broeckhoven C, De Jonghe P, et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996;4: 25-33.
    • (1996) Eur J Hum Genet , vol.4 , pp. 25-33
    • Nelis, E.1    Van Broeckhoven, C.2    De Jonghe, P.3
  • 17
    • 0030048089 scopus 로고    scopus 로고
    • Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease
    • Roa BB, Warner LE, Garcia CA, et al. Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease. Hum Mutat 1996;7:36-45.
    • (1996) Hum Mutat , vol.7 , pp. 36-45
    • Roa, B.B.1    Warner, L.E.2    Garcia, C.A.3
  • 18
    • 16044362374 scopus 로고    scopus 로고
    • Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type IB, Dejerine-Sottas, and congenital hypomyelination
    • Warner LE, Hilz MJ, Appel SH, et al. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type IB, Dejerine-Sottas, and congenital hypomyelination. Neuron 1996;17:451-460.
    • (1996) Neuron , vol.17 , pp. 451-460
    • Warner, L.E.1    Hilz, M.J.2    Appel, S.H.3
  • 19
    • 0027422165 scopus 로고
    • De novo mutation of the myelin P0 gene in Déjerine-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 Déjerine-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
  • 20
    • 0028017306 scopus 로고
    • Identification of a de novo insertional mutation in P0 in a patient with a Déjerine-Sottas syndrome (DSS) phenotype
    • Rautenstrauss B, Nelis E, Grehl H, Pfeiffer RA, Van Broeckhoven C. Identification of a de novo insertional mutation in P0 in a patient with a Déjerine-Sottas syndrome (DSS) phenotype. Hum Mol Genet 1994;3:1701-1702.
    • (1994) Hum Mol Genet , vol.3 , pp. 1701-1702
    • Rautenstrauss, B.1    Nelis, E.2    Grehl, H.3    Pfeiffer, R.A.4    Van Broeckhoven, C.5
  • 21
    • 0018942439 scopus 로고
    • The clinical features of hereditary motor and sensory neuropathy types I and II
    • Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980;103: 259-280.
    • (1980) Brain , vol.103 , pp. 259-280
    • Harding, A.E.1    Thomas, P.K.2
  • 22
    • 0018901265 scopus 로고
    • Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature
    • Harding AE, Thomas PK. Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature. J Neurol Sci 1980;45:337-348.
    • (1980) J Neurol Sci , vol.45 , pp. 337-348
    • Harding, A.E.1    Thomas, P.K.2
  • 23
    • 0027317609 scopus 로고
    • Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome Ip and evidence of genetic heterogeneity
    • Ben Othmane K, Middleton LT, Loprest LJ, et al. Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome Ip and evidence of genetic heterogeneity. Genomics 1993;17:370-375.
    • (1993) Genomics , vol.17 , pp. 370-375
    • Ben Othmane, K.1    Middleton, L.T.2    Loprest, L.J.3
  • 24
    • 0029150128 scopus 로고
    • Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q
    • Kwon JM, Elliott JL, Yee WC, et al. Assignment of a second Charcot-Marie-Tooth type II locus to chromosome 3q. Am J Hum Genet 1995;57:853-858.
    • (1995) Am J Hum Genet , vol.57 , pp. 853-858
    • Kwon, J.M.1    Elliott, J.L.2    Yee, W.C.3
  • 26
    • 0030011973 scopus 로고    scopus 로고
    • Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2
    • Yoshioka R, Dyck PJ, Chance PF. Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. Neurology 1996;46: 569-571.
    • (1996) Neurology , vol.46 , pp. 569-571
    • Yoshioka, R.1    Dyck, P.J.2    Chance, P.F.3
  • 27
    • 0029894937 scopus 로고    scopus 로고
    • Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13
    • Timmerman V, De Jonghe P, Spoelders P, et al. Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13. Neurology 1996;46:1311-1318.
    • (1996) Neurology , vol.46 , pp. 1311-1318
    • Timmerman, V.1    De Jonghe, P.2    Spoelders, P.3
  • 28
    • 0027715018 scopus 로고
    • The major peripheral myelin protein zero gene: Structure and localization in the cluster of Fcγ receptor genes on human chromosome 1q21.3-q23
    • Pham-Dinh D, Fourbil Y, Blanquet F, et al. The major peripheral myelin protein zero gene: structure and localization in the cluster of Fcγ receptor genes on human chromosome 1q21.3-q23. Hum Mol Genet 1993;12:2051-2054.
    • (1993) Hum Mol Genet , vol.12 , pp. 2051-2054
    • Pham-Dinh, D.1    Fourbil, Y.2    Blanquet, F.3
  • 29
    • 0023967387 scopus 로고
    • Isolation and analysis of the gene encoding peripheral myelin protein zero
    • Lemke G, Lamar E, Patterson J. Isolation and analysis of the gene encoding peripheral myelin protein zero. Neuron 1988;1: 73-83.
    • (1988) Neuron , vol.1 , pp. 73-83
    • Lemke, G.1    Lamar, E.2    Patterson, J.3
  • 30
    • 0027221994 scopus 로고
    • Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ)
    • Hayasaka K, Himoro M, Wang Y, et al. Structure and chromosomal localization of the gene encoding the human myelin protein zero (MPZ). Genomics 1993;17:755-758.
    • (1993) Genomics , vol.17 , pp. 755-758
    • Hayasaka, K.1    Himoro, M.2    Wang, Y.3
  • 32
    • 0026564694 scopus 로고
    • Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a)
    • Raeymaekers P, Timmerman V, Nelis E, et al. Estimation of the size of the chromosome 17p11.2 duplication in Charcot-Marie-Tooth neuropathy type 1a (CMT1a). J Med Genet 1992; 29:5-11.
    • (1992) J Med Genet , vol.29 , pp. 5-11
    • Raeymaekers, P.1    Timmerman, V.2    Nelis, E.3
  • 33
    • 0025868571 scopus 로고
    • DNA duplication associated with Charcot-Marie-Tooth disease type 1A
    • Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-232.
    • (1991) Cell , vol.66 , pp. 219-232
    • Lupski, J.R.1    Montes De Oca-Luna, R.2    Slaugenhaupt, S.3
  • 34
    • 0028131591 scopus 로고
    • Rapid screening of myelin genes in CMT1 patients by SSCP analysis: Identification of new mutations and polymorphisms in the P0 gene
    • Nelis E, Timmerman V, De Jonghe P, et al. Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene. Hum Genet 1994;94:653-657.
    • (1994) Hum Genet , vol.94 , pp. 653-657
    • Nelis, E.1    Timmerman, V.2    De Jonghe, P.3
  • 35
    • 0023899694 scopus 로고
    • Role of glial cells in the differentiation and function of myelinated axons
    • Rosenbluth J. Role of glial cells in the differentiation and function of myelinated axons. Int J Dev Neurosci 1988;6:3-24.
    • (1988) Int J Dev Neurosci , vol.6 , pp. 3-24
    • Rosenbluth, J.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.