A point mutation in Codon 3 of connexin-32 is associated with X-linked Charcot-Marie-Tooth neuropathy

被引：0
|
作者：
Gupta, S
Benstead, T
Neumann, P
Guernsey, D
机构：
[1] DALHOUSIE UNIV, FAC MED, DEPT PATHOL, DIV MOL PATHOL & MOL GENET, HALIFAX, NS B3H 4H7, CANADA
[2] DALHOUSIE UNIV, FAC MED, DEPT MED, DIV NEUROL, HALIFAX, NS B3H 4H7, CANADA
[3] DALHOUSIE UNIV, FAC MED, DEPT ANAT & NEUROBIOL, HALIFAX, NS B3H 4H7, CANADA
来源：
HUMAN MUTATION | 1996年 / 8卷 / 04期
关键词：
D O I：
10.1002/(SICI)1098-1004(1996)8:4<375::AID-HUMU14>3.0.CO;2-#
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：375 / 376
页数：2
相关论文
共 50 条
  • [41] MAPPING OF THE GENE FOR X-LINKED DOMINANT CHARCOT-MARIE-TOOTH NEUROPATHY
    IONASESCU, VV
    TROFATTER, J
    HAINES, JL
    IONASESCU, R
    SEARBY, C
    NEUROLOGY, 1992, 42 (04) : 903 - 908
  • [42] X-linked Charcot-Marie-Tooth disease: An inherited axonal neuropathy
    Midani, H
    Nance, MA
    Parry, G
    NEUROLOGY, 1996, 46 (02) : 35001 - 35001
  • [43] X-linked dominant Charcot-Marie-Tooth disease with connexin 32 (Cx32) mutations in Koreans
    Kim, Y.
    Choi, K-G
    Park, K. D.
    Lee, K. S.
    Chung, K. W.
    Choi, B-O
    CLINICAL GENETICS, 2012, 81 (02) : 142 - 149
  • [44] Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease
    Oh, S
    Ri, Y
    Bennett, MVL
    Trexler, EB
    Verselis, VK
    Bargiello, TA
    NEURON, 1997, 19 (04) : 927 - 938
  • [45] Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability
    Karadima, G
    Panas, M
    Floroskufi, P
    Kalfakis, N
    Vassilopoulos, D
    JOURNAL OF NEUROLOGY, 2006, 253 (02) : 263 - 264
  • [46] Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance
    K. Silander
    Päivi Meretoja
    Helena Pihko
    Vesa Juvonen
    Jouni Issakainen
    Pertti Aula
    Marja-Liisa Savontaus
    Human Genetics, 1997, 100 : 391 - 397
  • [47] Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease
    Abrams, CK
    Oh, S
    Ri, Y
    Bargiello, TA
    BRAIN RESEARCH REVIEWS, 2000, 32 (01) : 203 - 214
  • [48] Pathogenesis of X-linked Charcot-Marie-Tooth disease: Differential effects of two mutations in connexin 32
    Abrams, CK
    Freidin, M
    Bukauskas, F
    Dobrenis, K
    Bargiello, TA
    Verselis, VK
    Bennett, MVL
    Chen, L
    Sahenk, Z
    JOURNAL OF NEUROSCIENCE, 2003, 23 (33): : 10548 - 10558
  • [49] Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance
    Silander, K
    Meretoja, P
    Pihko, H
    Juvonen, V
    Issakainen, J
    Aula, P
    Savontaus, ML
    HUMAN GENETICS, 1997, 100 (3-4) : 391 - 397
  • [50] Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability
    Karadima, G.
    Panas, M.
    Floroskufi, P.
    Kalfakis, N.
    Vassilopoulos, D.
    EUROPEAN JOURNAL OF NEUROLOGY, 2005, 12 : 279 - 279
12345