Distal myopathy with rimmed vacuoles and mutation in GNE gene: report of a Taiwanese family

被引:0
|
作者
Chu, Chun-che [1 ]
Kuo, Hung-chou [1 ]
Yeh, Tu-hsueh [1 ]
Ro, Lung-shan [1 ]
Chen, Shyue-ru [1 ]
Huang, Chin-chang [1 ]
机构
[1] Chang Gung Mem Hosp, Taipei 10591, Taiwan
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:S93 / S93
页数:1
相关论文
共 50 条
  • [21] A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia
    Changqing Zhen
    Feng Guo
    Xiaosheng Fang
    Ying Liu
    Xin Wang
    Neurological Sciences, 2014, 35 : 1479 - 1481
  • [22] Analysis of 34 Korean patients of GNE mutations associated distal myopathy with rimmed vacuoles
    La, Y.
    Lee, J.
    Park, H.
    Choi, Y.
    NEUROMUSCULAR DISORDERS, 2019, 29 : S142 - S142
  • [23] Mutation analysis of the one gene in distal myopathy with rimmed vacuoles (DMRV) patients in Thailand
    Liewluck, Teerin
    Pho-Iam, Theeraphong
    Limwongse, Chanin
    Thongnoppakhun, Wanna
    Boonyapisit, Kanokwan
    Raksadawan, Natte
    Murayama, Kilimiko
    Hayashi, Yukiko K.
    Nishino, Ichizo
    Sangruchi, Tumtip
    MUSCLE & NERVE, 2006, 34 (06) : 775 - 778
  • [24] Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family
    Stober, Andrea
    Aleo, Angelo
    Kuhl, Valerio
    Bornemann, Antje
    Walter, Maggie C.
    Lochmueller, Hanns
    Lindner, Alfred
    Krause, Sabine
    NEUROMUSCULAR DISORDERS, 2010, 20 (05) : 335 - 336
  • [25] Proteasomes in distal myopathy with rimmed vacuoles
    Kumamoto, T
    Fujimoto, S
    Nagao, S
    Masuda, T
    Sugihara, R
    Ueyama, H
    Tsuda, T
    INTERNAL MEDICINE, 1998, 37 (09) : 746 - 752
  • [26] Distal myopathy with rimmed vacuoles: clinical and muscle morphological characteristics and spectrum of GNE gene mutations in 53 Chinese patients
    Lu, Xianghui
    Pu, Chuanqiang
    Huang, Xusheng
    Liu, Jiexiao
    Mao, Yanling
    NEUROLOGICAL RESEARCH, 2011, 33 (10) : 1025 - 1031
  • [27] A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy
    Malicdan, May Christine V.
    Noguchi, Satoru
    Nonaka, Ikuya
    Hayashi, Yukiko K.
    Nishino, Ichizo
    HUMAN MOLECULAR GENETICS, 2007, 16 (22) : 2669 - 2682
  • [28] Atypical parkinsonism in distal myopathy with rimmed vacuoles
    Ishihara, Tomohiko
    Ozawa, Tetsutaro
    Igarashi, Shuichi
    Kitsukawa, Yuko
    Takagi, Masahito
    Hirose, Masaki
    Tokutake, Takayoshi
    Tanaka, Keiko
    Nishizawa, Masatoyo
    MOVEMENT DISORDERS, 2008, 23 (06) : 912 - 915
  • [29] Distal myopathy with rimmed vacuoles and cerebellar atrophy
    Merkli, H
    Pal, E
    Gati, I
    Czopf, J
    NEUROMUSCULAR DISORDERS, 2003, 13 (7-8) : 652 - 652
  • [30] Distal myopathy with rimmed vacuoles and cerebellar atrophy
    Merkli, Hajnalka
    Pal, Endre
    Gati, Istvan
    Czopt, Jozsef
    PATHOLOGY & ONCOLOGY RESEARCH, 2006, 12 (02) : 115 - 117