Mutations in the X-linked form of Charcot-Marie-Tooth disease in the French population

被引:0
|
作者
P. Latour
N. Lévy
M. Paret
F. Chapon
G. Chazot
P. Clavelou
P. Couratier
R. Dumas
E. Ollagnon
J. Pouget
A. Setiey
J.M. Vallat
M. Boucherat
M. Fontes
A. Vandenberghe
机构
[1] Unité Neurogénétique Moléculaire,
[2] Hospices Civils de Lyon,undefined
[3] Hopital de l'Antiquaille,undefined
[4] F-69321,undefined
[5] Lyon Cedex 05,undefined
[6] France,undefined
[7] Départment de Génétique Médicale CHU Timone-Enfants,undefined
[8] F-13005,undefined
[9] Marseille,undefined
[10] France,undefined
[11] INSERM U406,undefined
[12] Génétique Médicale et Développement,undefined
[13] Faculté de médecine,undefined
[14] F-13385,undefined
[15] Marseille Cedex 05,undefined
[16] France,undefined
[17] Service de Neurologie,undefined
[18] CHRU de Caen,undefined
[19] F-14033,undefined
[20] Caen Cedex,undefined
[21] France,undefined
[22] Service de Neurologie,undefined
[23] Hopital Neurologique,undefined
[24] F-69394,undefined
[25] Lyon Cedex 03,undefined
[26] France,undefined
[27] Service de Neurologie,undefined
[28] CHU de Clemont-Ferrand,undefined
[29] F-63407,undefined
[30] Chamalitères Cedex,undefined
[31] France,undefined
[32] Service de Neurologie,undefined
[33] CHU Limoges,undefined
[34] F-87042,undefined
[35] Limoges Cedex,undefined
[36] France,undefined
[37] Service de Neurologie,undefined
[38] Hopital Général,undefined
[39] F-21033,undefined
[40] Dijon Cedex,undefined
[41] France,undefined
[42] Service de Génétique,undefined
[43] Hotel Dieu,undefined
[44] F-69288,undefined
[45] Lyon Cedex,undefined
[46] France,undefined
[47] Service de Neurologie,undefined
[48] CHU Timone-Adultes,undefined
[49] F-13385,undefined
[50] Marseille Cedex,undefined
来源
Neurogenetics | 1997年 / 1卷
关键词
Keywords: Charcot-Marie-Tooth disease, CMTX, SSCP, connexin32 mutations, frequency;
D O I
暂无
中图分类号
学科分类号
摘要
引用
收藏
页码:117 / 123
页数:6
相关论文
共 50 条
  • [21] Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease
    Huttner, I. G.
    Kennerson, M. L.
    Reddel, S. W.
    Radovanovic, D.
    Nicholson, G. A.
    NEUROLOGY, 2006, 67 (11) : 2016 - 2021
  • [22] Evidence for Cognitive Deficits in X-Linked Charcot-Marie-Tooth Disease
    Kasselimis, Dimitrios
    Karadima, Georgia
    Angelopoulou, Georgia
    Breza, Marianthi
    Tsolakopoulos, Dimitrios
    Potagas, Constantin
    Panas, Marios
    Koutsis, Georgios
    JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY, 2020, 26 (03) : 294 - 302
  • [23] X-linked Charcot-Marie-Tooth disease and connexin32
    Ionasescu, VV
    CELL BIOLOGY INTERNATIONAL, 1998, 22 (11-12) : 807 - 813
  • [24] A LINKAGE STUDY OF THE LOCUS FOR X-LINKED CHARCOT-MARIE-TOOTH DISEASE
    GOONEWARDENA, P
    WELIHINDA, J
    ANVRET, M
    GYFTODIMOU, J
    HAEGERMARK, A
    ISELIUS, L
    LINDSTEN, J
    PETTERSSON, U
    CLINICAL GENETICS, 1988, 33 (06) : 435 - 440
  • [25] 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
  • [26] LOCALIZATION OF X-LINKED CHARCOT-MARIE-TOOTH DISEASE ON PROXIMAL XQ
    LASPADA, A
    ROLING, D
    FISCHBECK, KH
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 357 - 357
  • [27] X-linked Charcot-Marie-Tooth disease and connexin32
    Fischbeck, KH
    Abel, A
    Lin, GS
    Scherer, SS
    CHARCOT-MARIE-TOOTH DISORDERS, 1999, 883 : 36 - 41
  • [28] X-linked Charcot-Marie-Tooth disease with myokymia: Report of a family
    Chakravarty, A
    Ghosh, B
    Sengupta, S
    Mukhopadhyay, S
    NEUROLOGY INDIA, 2003, 51 (03) : 385 - 387
  • [29] The Clinical Spectrum of X-Linked Charcot-Marie-Tooth Disease in Childhood
    Yiu, Eppie M.
    Geevasingha, Nimeshan
    Nicholson, Garth
    Fagan, Elizabeth
    Ouvrier, Robert A.
    Ryan, Monique M.
    NEUROLOGY, 2009, 72 (11) : A365 - A365
  • [30] Neuropsychological assessment of patients with X-linked Charcot-Marie-Tooth disease
    Koutsis, G.
    Kasselimis, D.
    Karadima, G.
    Angelopoulou, G.
    Breza, M.
    Tsolakopoulos, D.
    Potagas, C.
    Panas, M.
    EUROPEAN JOURNAL OF NEUROLOGY, 2017, 24 : 464 - 464