Sequencing of the peripheral myelin protein zero (MPZ) gene in hereditary motor and sensory neuropathy (HMSN): assessment of the frequency of MPZ gene mutations in HMSN type IIII

被引:0
|
作者
Lee, MJ
Houlden, H
Sweeney, M
Davis, M
Thomas, PK
Manji, H
Wood, N
Reilly, M
机构
[1] Ipswich Gen Hosp, Neurol Inst, Ipswich, Suffolk, England
[2] Ipswich Gen Hosp, Dept Neurol, Ipswich, Suffolk, England
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:S20 / S20
页数:1
相关论文
共 22 条
  • [1] Myelin protein zero (MPZ) gene mutations in nonduplication type 1 Charcot-Marie-Tooth disease
    Roa, BB
    Warner, LE
    Garcia, CA
    Russo, D
    Lovelace, R
    Chance, PF
    Lupski, JR
    HUMAN MUTATION, 1996, 7 (01) : 36 - 45
  • [2] Mitochondrial trifunctional protein deficiency mimicking early onset hereditary motor and sensory neuropathy (HMSN) type II
    Molenaar, DSM
    Wanders, RJA
    Duran, M
    Barth, PG
    Poll-The, BT
    NEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 730 - 730
  • [3] Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy
    Mastaglia, FL
    Nowak, KJ
    Stell, R
    Phillips, BA
    Edmondston, JE
    Dorosz, SM
    Wilton, SD
    Hallmayer, J
    Kakulas, BA
    Laing, NG
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1999, 67 (02): : 174 - 179
  • [4] Charcot-Marie-Tooth syndrome. Two novel mutations in the myelin protein zero (MPZ) gene
    Braathen, G. J.
    Sand, J. C.
    Bukholm, G.
    Russell, M. B.
    JOURNAL OF NEUROLOGY, 2006, 253 : 52 - 52
  • [5] Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene)
    Baloh, RH
    Jen, JC
    Kim, G
    Baloh, RW
    NEUROLOGY, 2004, 62 (10) : 1905 - 1906
  • [6] Clinical-genetic correlations in the hereditary motor-sensor neuropathy caused by mutations in the MPZ (P0) gene
    Milovidova, T. B.
    Dadali, E. L.
    Fedotov, V. P.
    Shchagina, O. A.
    Polyakov, A. V.
    ZHURNAL NEVROLOGII I PSIKHIATRII IMENI S S KORSAKOVA, 2011, 111 (12) : 48 - 55
  • [7] Natural History Baseline of Hereditary Motor Sensory Peripheral Neuropathies That Caused by Mutations in the Myelin Protein Zero
    Sanmaneechai, Oranee
    Finkel, Richard
    Burns, Joshua
    Muntoni, Francesco
    Scherer, Steven
    Reilly, Mary
    Shy, Michael
    NEUROLOGY, 2013, 80
  • [8] The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
    De Jonghe, P
    Timmerman, V
    Ceuterick, C
    Nelis, E
    De Vriendt, E
    Löfgren, A
    Vercruyssen, A
    Verellen, C
    Van Maldergem, L
    Martin, JJ
    Van Broeckhoven, C
    BRAIN, 1999, 122 : 281 - 290
  • [9] Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy:: clinical, neurophysiological and magnetic resonance imaging findings
    Yener, GG
    Guiochon-Mantel, A
    Obuz, F
    Baklan, B
    Öztürk, V
    Kovanhkaya, I
    Çakmur, R
    Genç, A
    JOURNAL OF NEUROLOGY, 2001, 248 (03) : 193 - 196
  • [10] Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings
    G.G. Yener
    A. Guiochon-Mantel
    F. Obuz
    B. Baklan
    V. Öztürk
    İ. Kovanlıkaya
    R. Çakmur
    A. Genç
    Journal of Neurology, 2001, 248 : 193 - 196