X-linked dominant Charcot-Marie-Tooth disease: Novel connexin 32 mutations and their relationship to clinical and pathological disease

被引：0
|
作者：
Tan, CC
Ainsworth, PJ
Ionasescu, V
Bolton, CF
Hahn, AF
机构：
来源：
ANNALS OF NEUROLOGY | 1996年 / 40卷 / 03期
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：
引用
收藏
页码：T215 / T215
页数：1
相关论文
共 50 条
  • [31] Pathophysiology of connexin32 (CX32) mutations in X-linked Charcot-Marie-Tooth disease (CMTX).
    Deschenes, SM
    Spray, DC
    Fischbeck, KH
    MOLECULAR BIOLOGY OF THE CELL, 1996, 7 : 2680 - 2680
  • [32] CORRELATIONS BETWEEN CONNEXIN 32 POINT MUTATIONS AND CLINICAL FINDINGS IN X-LINKED DOMINANT CHARCOT-MARIE-TOOTH NEUROPATHY
    IONASESCU, R
    SEARBY, C
    IONASESCU, V
    NEUROLOGY, 1995, 45 (04) : A423 - A423
  • [33] Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy
    Ionasescu, V
    Ionasescu, R
    Searby, C
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 63 (03): : 486 - 491
  • [34] Novel mutations in the Connexin 32 gene associated with X-linked Charcot-Marie tooth disease
    Tan, CC
    Ainsworth, PJ
    Hahn, AF
    MacLeod, PM
    HUMAN MUTATION, 1996, 7 (02) : 167 - 171
  • [35] Trafficking and targeting of connexin32 mutations to gap junctions in Charcot-Marie-Tooth X-linked disease
    Martin, PEM
    Evans, WH
    GAP JUNCTIONS: MOLECULAR BASIS OF CELL COMMUNICATION IN HEALTH AND DISEASE, 2000, 49 : 461 - 481
  • [36] Functional analysis of connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.
    Ressot, C
    Gomes, D
    Dautigny, A
    PhamDinh, D
    Bruzzone, R
    MOLECULAR BIOLOGY OF THE CELL, 1996, 7 : 2681 - 2681
  • [37] X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): New mutations in the connexin32 gene
    Ressot, C
    Latour, P
    BlanquetGrossard, F
    Sturtz, F
    Duthel, S
    Battin, J
    Corbillon, E
    Ollagnon, E
    Serville, F
    Vandenberghe, A
    Dautigny, A
    PhamDinh, D
    HUMAN GENETICS, 1996, 98 (02) : 172 - 175
  • [38] Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy
    Ionasescu, VV
    Searby, C
    Ionasescu, R
    Neuhaus, IM
    Werner, R
    NEUROLOGY, 1996, 47 (02) : 541 - 544
  • [39] Genetic heterogeneity of X-linked dominant Charcot-Marie-Tooth disease
    Choi, B. -O.
    Lee, G.
    Park, E.
    Jung, H. -K.
    Hyun, J.
    Park, J.
    Kim, S. -H.
    JOURNAL OF NEUROLOGY, 2011, 258 : 111 - 111
  • [40] Clinical phenotype in X-linked Charcot-Marie-Tooth disease with an entire deletion of the connexin 32 coding sequence
    Nazagawa, M
    Takashima, H
    Umehara, F
    Arimura, K
    Miyashita, F
    Takenouchi, N
    Matsuyama, W
    Osame, M
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2001, 185 (01) : 31 - 37
12345