A family with 2 X-linked disorders: Charcot-Marie-Tooth disease and hemophilia A

被引：1
|
作者：
Shahrizaila, Nortina [1 ]
Goh, Khean Jin [1 ]
Ahmad-Annuar, Azlina [2 ]
Chaudhry, Rabia [3 ,4 ]
Ly, Carolyn [3 ,4 ]
Ryan, Monique M. [5 ]
Nicholson, Garth [3 ,4 ]
Kennerson, Marina [3 ,4 ]
机构：
[1] Univ Malaya, Fac Med, Div Neurol, Kuala Lumpur, Malaysia
[2] Univ Malaya, Fac Med, Dept Mol Med, Kuala Lumpur, Malaysia
[3] Univ Sydney, Northcott Neurosci Lab, ANZAC Res Inst, Sydney, NSW 2006, Australia
[4] Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia
[5] Royal Childrens Hosp, Childrens Neurosci Ctr, Melbourne, Vic, Australia
来源：
MUSCLE & NERVE | 2012年 / 46卷 / 03期
关键词：
NONCODING REGION; NEUROPATHY; GENE; MUTATION;
D O I：
10.1002/mus.23346
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：454 / 455
页数：2
相关论文
共 50 条
  • [21] The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits
    Wen, Qingxian
    Cao, Longqiao
    Yang, Cun
    Xie, Yanchen
    FRONTIERS IN NEUROLOGY, 2018, 9
  • [22] Axonal excitability in X-linked dominant Charcot Marie Tooth disease
    Liang, Christina
    Howells, James
    Kennerson, Marina
    Nicholson, Garth A.
    Burke, David
    Ng, Karl
    CLINICAL NEUROPHYSIOLOGY, 2014, 125 (06) : 1261 - 1269
  • [23] Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum
    Zhan, Feixia
    Tian, Wotu
    Cao, Yuwen
    Wu, Jingying
    Ni, Ruilong
    Liu, Taotao
    Yuan, Yun
    Luan, Xinghua
    Cao, Li
    JOURNAL OF CLINICAL NEUROLOGY, 2024, 20 (01): : 59 - 66
  • [24] Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease
    Dubourg, O
    Tardieu, S
    Birouk, N
    Gouider, R
    Léger, JM
    Maisonobe, T
    Brice, A
    Bouche, P
    LeGuern, E
    BRAIN, 2001, 124 : 1958 - 1967
  • [25] A family with both X-linked dominant Charcot-Marie-Tooth disease and myotonic dystrophy type 1 mutations with phenotypic variations
    Mori, Chiaki
    Nakatani, Rie
    Nakamori, Masayuki
    Matsumura, Tsuyoshi
    Takahashi, Masanori P.
    Fujimura, Harutoshi
    Mochizuki, Hideki
    Sakoda, Saburo
    NEUROLOGY AND CLINICAL NEUROSCIENCE, 2019, 7 (02): : 88 - 90
  • [26] GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali
    Yalcouye, Abdoulaye
    Diallo, Seybou H.
    Cisse, Lassana
    Karembe, Mamadou
    Diallo, Salimata
    Coulibaly, Thomas
    Diarra, Salimata
    Coulibaly, Dramane
    Keita, Mohamed
    Guinto, Cheick O.
    Fischbeck, Kenneth H.
    Wonkam, Ambroise
    Landoure, Guida
    JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, 2022, 27 (02) : 113 - 119
  • [27] Vocal Cord Paresis and Probable X-Linked Charcot-Marie-Tooth Disease With Novel GJB1 Mutation
    Li, Qinghua
    Chen, Meiling
    Liu, Kaixiang
    Lin, Xiaohui
    Chui, Deihua
    INTERNATIONAL JOURNAL OF NEUROSCIENCE, 2010, 120 (11) : 731 - 734
  • [28] Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-tooth disease
    Abel, A
    Bone, LJ
    Messing, A
    Scherer, SS
    Fischbeck, KH
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1999, 58 (07) : 702 - 710
  • [29] A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree
    Liu, Yingdi
    Xue, Jinjie
    Li, Zhuo
    Linpeng, Siyuan
    Tan, Hu
    Teng, Yanling
    Liang, Desheng
    Wu, Lingqian
    MOLECULAR GENETICS & GENOMIC MEDICINE, 2020, 8 (03):
  • [30] Charcot-Marie-Tooth disease
    Szigeti, Kinga
    Lupski, James R.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (06) : 703 - 710
12345