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Volumn 60, Issue 3, 2003, Pages 506-508

Deafness and CMT disease associated with a novel four amino acid deletion in the PMP22 gene

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SEQUENCE; ARTICLE; BONE CONDUCTION; CLINICAL ARTICLE; CLINICAL EXAMINATION; DISEASE ASSOCIATION; DISTORTION PRODUCT OTOACOUSTIC EMISSION; FAMILY STUDY; FEMALE; GENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MALE; NUCLEOTIDE SEQUENCE; PEDIGREE; PERCEPTION DEAFNESS; PMP22 GENE; PRIORITY JOURNAL;

EID: 0037432064     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000044048.27971.FC     Document Type: Article
Times cited : (41)

References (10)
  • 1
    • 0028902548 scopus 로고
    • Biology and genetics of hereditary motor and sensory neuropathies
    • Suter U, Snipes GJ. Biology and genetics of hereditary motor and sensory neuropathies. Annu Rev Neurosci 1995;18:45-75.
    • (1995) Annu Rev Neurosci , vol.18 , pp. 45-75
    • Suter, U.1    Snipes, G.J.2
  • 2
    • 0027314668 scopus 로고
    • Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene
    • Roa BB, Garcia CA, Suter U, et al. Charcot-Marie-Tooth disease type 1A. 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
  • 3
    • 0036157054 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation
    • Boerkoel CF, Takashima H, Garcia CA, et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 2002;51:190-201.
    • (2002) Ann Neurol , vol.51 , pp. 190-201
    • Boerkoel, C.F.1    Takashima, H.2    Garcia, C.A.3
  • 4
    • 0005088348 scopus 로고    scopus 로고
    • A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness
    • Kovach MJ, Lin JP, Boyadjiev S, et al. A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am J Hum Genet 1999;64:1580-1593.
    • (1999) Am J Hum Genet , vol.64 , pp. 1580-1593
    • Kovach, M.J.1    Lin, J.P.2    Boyadjiev, S.3
  • 5
    • 0033596845 scopus 로고    scopus 로고
    • Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q)
    • Stojkovic T, Latour P, Vandenberghe A, Hurtevent JF, Vermersch P. Sensorineural deafness in X-linked Charcot-Marie-Tooth disease with connexin 32 mutation (R142Q). Neurology 1999;52:1010-1014.
    • (1999) Neurology , vol.52 , pp. 1010-1014
    • Stojkovic, T.1    Latour, P.2    Vandenberghe, A.3    Hurtevent, J.F.4    Vermersch, P.5
  • 6
    • 0032949034 scopus 로고    scopus 로고
    • The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with clinically distinct Charcot-Marie-Tooth phenotype
    • De Jonghe P, Timmerman V, Ceuterick C, et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with clinically distinct Charcot-Marie-Tooth phenotype. Brain 1999;122:281-290.
    • (1999) Brain , vol.122 , pp. 281-290
    • De Jonghe, P.1    Timmerman, V.2    Ceuterick, C.3
  • 7
    • 0030919339 scopus 로고    scopus 로고
    • Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases
    • Birouk N, Gouider R, Le Guern E, et al. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 1997;120:813-823.
    • (1997) Brain , vol.120 , pp. 813-823
    • Birouk, N.1    Gouider, R.2    Le Guern, E.3
  • 8
    • 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 CO, D'Urso D, Gabreels-Festen AA, Muller HW. Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A. Brain 2000;123:1001-1006.
    • (2000) Brain , vol.123 , pp. 1001-1006
    • Hanemann, C.O.1    D'Urso, D.2    Gabreels-Festen, A.A.3    Muller, H.W.4
  • 9
    • 0036070537 scopus 로고    scopus 로고
    • Aggresome formation in neuropathy based on peripheral myelin protein 22 mutations
    • Ryan MC, Shooter EM, Notterpek L. Aggresome formation in neuropathy based on peripheral myelin protein 22 mutations. Neurobiol Dis 2002;10:109-118.
    • (2002) Neurobiol Dis , vol.10 , pp. 109-118
    • Ryan, M.C.1    Shooter, E.M.2    Notterpek, L.3
  • 10
    • 0033971770 scopus 로고    scopus 로고
    • Recessive Charcot-Marie-Tooth disease
    • Lupski JR. Recessive Charcot-Marie-Tooth disease. Ann Neurol 2000; 47:6-8.
    • (2000) Ann Neurol , vol.47 , pp. 6-8
    • Lupski, J.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.