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
  • [1] Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)
    Cho, Anna
    Hayashi, Yukiko K.
    Monma, Kazunari
    Oya, Yasushi
    Noguchi, Satoru
    Nonaka, Ikuya
    Nishino, Ichizo
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2014, 85 (08): : 912 - 915
  • [2] Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles
    Kim, BJ
    Ki, CS
    Kim, JW
    Sung, DH
    Choi, YC
    Kim, S
    JOURNAL OF HUMAN GENETICS, 2006, 51 (02) : 137 - 140
  • [3] Mutation analysis of the GNE gene in Korean patients of distal myopathy with rimmed vacuoles
    Choi, YC
    Ki, CS
    Kim, JW
    Kim, BJ
    Lee, PK
    Sung, DH
    Kim, SH
    Han, YS
    Joo, IS
    Nishino, I
    NEUROMUSCULAR DISORDERS, 2005, 15 (9-10) : 730 - 731
  • [4] Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles
    Byoung Joon Kim
    Chang-Seok Ki
    Jong-Won Kim
    Duk Hyun Sung
    Young-Chul Choi
    Seung Hyun Kim
    Journal of Human Genetics, 2006, 51 : 137 - 140
  • [5] A Novel Mutation of the GNE Gene in Distal Myopathy with Rimmed Vacuoles: A Case with Inflammation
    Tanboon, Jantima
    Rongsa, Kanjana
    Pithukpakorn, Manop
    Boonyapisit, Kanokwan
    Limwongse, Chanin
    Sangruchi, Tumtip
    CASE REPORTS IN NEUROLOGY, 2014, 6 (01): : 55 - 59
  • [6] Heterozygous mutations affecting the epimerase domain of the GNE gene causing distal myopathy with rimmed vacuoles in a Taiwanese family
    Chu, Chun-Che
    Kuo, Hung-Chou
    Yeh, Tu-Hsueh
    Ro, Long-Sun
    Chen, Shyue-Ru
    Huang, Chin-Chang
    CLINICAL NEUROLOGY AND NEUROSURGERY, 2007, 109 (03) : 250 - 256
  • [7] Distal myopathy with rimmed vacuoles:: Novel mutations in the GNE gene
    Tomimitsu, H
    Ishikawa, K
    Shimizu, J
    Ohkoshi, N
    Kanazawa, I
    Mizusawa, H
    NEUROLOGY, 2002, 59 (03) : 451 - 454
  • [8] Distal myopathy with rimmed vacuoles is associated with GNE gene mutations
    Nishino, I
    Murayama, K
    Noguchi, S
    Sugie, K
    Nonaka, I
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 199 : S101 - S101
  • [9] Erratum to: Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuoles
    Byoung Joon Kim
    Chang-Seok Ki
    Jong-Won Kim
    Duk Hyun Sung
    Young-Chul Choi
    Seung Hyun Kim
    Journal of Human Genetics, 2006, 51 : 840 - 840
  • [10] Distal myopathy with rimmed vacuoles is caused by several missense mutations in the GNE gene
    Tomimitsu, H
    Ishikawa, K
    Shimizu, J
    Ohkoshi, N
    Kanazawa, I
    Mizusawa, H
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 199 : S103 - S103