Variable phenotypes are associated with pmp22 missense mutations

被引:0
|
作者
Russo, M.
Laura, M.
Polke, J.
Davis, M. B.
Blake, J.
Bradner, S.
Hughes, R. A.
Houlden, H.
Lunn, M. P.
Reilly, M.
机构
[1] MRC, Ctr Neuromuscular Dis, London, England
[2] Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England
[3] Norfolk & Norwich Univ Hosp, Norwich, Norfolk, England
[4] Inst Neurol, London WC1N 3BG, England
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
O129
引用
收藏
页码:S40 / S40
页数:1
相关论文
共 50 条
  • [1] Variable phenotypes are associated with PMP22 missense mutations
    Russo, M.
    Laura, M.
    Polke, J. M.
    Davis, M. B.
    Blake, J.
    Brandner, S.
    Hughes, R. A. C.
    Houlden, H.
    Bennett, D. L. H.
    Lunn, M. P. T.
    Reilly, M. M.
    NEUROMUSCULAR DISORDERS, 2011, 21 (02) : 106 - 114
  • [2] Variable phenotypes caused by the PMP22 S22F point mutation
    Christou, Y. P.
    Nicolaou, P.
    Kleopa, K.
    Kyriakides, T.
    Middleton, L.
    Zamba-Papanicolaou, E.
    Christodoulou, K.
    JOURNAL OF NEUROLOGY, 2012, 259 : S123 - S123
  • [3] HNPP due to a novel missense mutation of the PMP22 gene
    Nodera, H
    Nishimura, M
    Logigian, EL
    Herrmann, DN
    Kaji, R
    NEUROLOGY, 2003, 60 (11) : 1863 - 1864
  • [4] Recessive PMP22 mutations:: Quantitative and qualitative aspects
    Beckmann, A
    Schröder, JM
    ANNALS OF NEUROLOGY, 2000, 48 (01) : 131 - 132
  • [5] MPZ and PMP22 genes mutations in Croatian patients
    Grskovic, B
    Ferencak, G
    Stavljenic-Rukavina, A
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 : 124 - 124
  • [6] A novel stop codon mutation in the PMP22 gene associated with a variable phenotype
    Abe, KT
    Passos-Bueno, MR
    Pavanello, RCM
    Lino, AMM
    Hirata, MTA
    Brotto, MW
    Marchiori, PE
    Zatz, M
    NEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 762 - 763
  • [7] A novel stop codon mutation in the PMP22 gene associated with a variable phenotype
    Abe, KT
    Lino, AMM
    Hirata, MTA
    Pavanello, RCM
    Brotto, MWI
    Marchiori, PE
    Zatz, M
    NEUROMUSCULAR DISORDERS, 2004, 14 (05) : 313 - 320
  • [8] Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease
    Koutsis, Georgios
    Pandraud, Amelie
    Polke, James M.
    Wood, Nicholas W.
    Panas, Marios
    Karadima, Georgia
    Houlden, Henry
    BRAIN, 2012, 135
  • [9] FOUR NOVEL POINT MUTATIONS IN THE PMP22 GENE WITH PHENOTYPES OF HNPP AND DEJERINE-SOTTAS NEUROPATHY
    Brozkova, Dana
    Mazanec, Radim
    Rychly, Zdenek
    Haberlova, Jana
    Boehm, Jiri
    Stanek, Jan
    Plevova, Pavlina
    Lisonova, Jana
    Sabova, Jana
    Sakmaryova, Iva
    Seeman, Pavel
    MUSCLE & NERVE, 2011, 44 (05) : 819 - 822
  • [10] Recessive PMP22 mutations:: Quantitative and qualitative aspects -: Reply
    Lupski, JR
    ANNALS OF NEUROLOGY, 2000, 48 (01) : 132 - 132