Mutation spectrum of the dystrophin gene in 507 Korean Duchenne/Becker muscular dystrophy patients

被引:1
|
作者
Ryu, H. [1 ]
Cho, A. [2 ]
Seong, M. [3 ]
Park, S. [3 ]
Lee, J. [4 ]
Lim, B. [4 ]
Kim, K. [4 ]
Hwang, Y. [4 ]
Chae, J. [4 ]
机构
[1] Chuncheon Sacred Heart Hosp, Pediat, Chunchon, South Korea
[2] Ewha Womans Univ, Coll Med, Pediat, Seoul, South Korea
[3] Seoul Natl Univ Hosp, Lab Med, Seoul 110744, South Korea
[4] Seoul Natl Univ, Childrens Hosp, Pediat, Seoul, South Korea
关键词
D O I
10.1016/j.nmd.2015.06.254
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
G.P.229
引用
收藏
页码:S255 / S255
页数:1
相关论文
共 50 条
  • [21] Deletion analysis of the dystrophin gene in Duchenne and Becker muscular dystrophy patients: Use in carrier diagnosis
    Kumari, D
    Mital, A
    Gupta, M
    Goyle, S
    NEUROLOGY INDIA, 2003, 51 (02) : 223 - 226
  • [22] Exon Deletion Patterns of the Dystrophin Gene in 82 Vietnamese Duchenne/Becker Muscular Dystrophy Patients
    Van Khanh Tran
    Van Thanh Ta
    Dung Chi Vu
    Suong Thi-Bang Nguyen
    Hai Ngoc Do
    Minh Hieu Ta
    Thinh Huy Tran
    Matsuo, Masafumi
    JOURNAL OF NEUROGENETICS, 2013, 27 (04) : 170 - 175
  • [23] Proportion and pattern of dystrophin gene deletions in North Indian Duchenne and Becker muscular dystrophy patients
    Vinita Singh
    Shirish Sinha
    Sudhish Mishra
    Lakshmi Shankar Chaturvedi
    Sunil Pradhan
    R. D. Mittal
    B. Mittal
    Human Genetics, 1997, 99 : 206 - 208
  • [24] Becker muscular dystrophy with a stop codon mutation in the 5′ of the dystrophin gene
    Magri, F.
    Del Bo, R.
    Fortunato, F.
    Ghezzi, S.
    Cagliani, R.
    Sironi, M.
    D'Angelo, M. G.
    Crugnola, V.
    Moggi, M.
    Bresolin, N.
    Comi, G. P.
    NEUROMUSCULAR DISORDERS, 2008, 18 (9-10) : 777 - 778
  • [25] SENSITIVITY OF DNA AND DYSTROPHIN TESTING IN PATIENTS WITH DUCHENNE BECKER MUSCULAR-DYSTROPHY
    SPECHT, L
    SHAPIRO, F
    BEGGS, A
    HOFFMAN, E
    KUNKEL, L
    ANNALS OF NEUROLOGY, 1989, 26 (03) : 465 - 465
  • [26] Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy
    Florencia, G
    Verónica, F
    Viviana, D
    Irene, S
    NEUROLOGICAL RESEARCH, 2004, 26 (01) : 83 - 87
  • [27] DYSTROPHIN ABNORMALITIES IN DUCHENNE-BECKER MUSCULAR-DYSTROPHY
    HOFFMAN, EP
    KUNKEL, LM
    NEURON, 1989, 2 (01) : 1019 - 1029
  • [28] Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation
    Gholam Reza Zamani
    Fatemeh Karami
    Mahshid Mehdizadeh
    Abolfazl Movafagh
    Yalda Nilipour
    Mahdi Zamani
    Neurological Sciences, 2015, 36 : 2011 - 2017
  • [29] Analysis of dystrophin gene in Iranian Duchenne and Becker muscular dystrophies patients and identification of a novel mutation
    Zamani, Gholam Reza
    Karami, Fatemeh
    Mehdizadeh, Mahshid
    Movafagh, Abolfazl
    Nilipour, Yalda
    Zamani, Mahdi
    NEUROLOGICAL SCIENCES, 2015, 36 (11) : 2011 - 2017
  • [30] Intellectual ability in Duchenne muscular dystrophy and dystrophin gene mutation location
    Vojinovic, D.
    Pesovic, J.
    Pavicevic, D. Savic
    Rasic, V. Milic
    Mijalkovic, G.
    Lukic, V.
    Mladenovic, J.
    Maksimovic, N.
    Todorovic, S.
    EUROPEAN JOURNAL OF NEUROLOGY, 2014, 21 : 255 - 255