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
来源：
NEUROMUSCULAR DISORDERS | 2015年 / 25卷
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
  • [31] A MISSENSE MUTATION IN THE DYSTROPHIN GENE IN A DUCHENNE MUSCULAR-DYSTROPHY PATIENT
    PRIOR, TW
    PAPP, AC
    SNYDER, PJ
    BURGHES, AHM
    BARTOLO, C
    SEDRA, MS
    WESTERN, LM
    MENDELL, JR
    NATURE GENETICS, 1993, 4 (04) : 357 - 360
  • [32] 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.
    JOURNAL OF NEUROLOGY, 2014, 261 : S174 - S175
  • [33] INTELLECTUAL ABILITY IN THE DUCHENNE MUSCULAR DYSTROPHY AND DYSTROPHIN GENE MUTATION LOCATION
    Rasic, Milic, V
    Vojinovic, D.
    Pesovic, J.
    Mijalkovic, G.
    Lukic, V
    Mladenovic, J.
    Kosac, A.
    Novakovic, I
    Maksimovic, N.
    Romac, S.
    Todorovic, S.
    Pavicevic, Savic D.
    BALKAN JOURNAL OF MEDICAL GENETICS, 2014, 17 (02) : 25 - 35
  • [34] RELATIVELY LOW PROPORTION OF DYSTROPHIN GENE DELETIONS IN ISRAELI DUCHENNE AND BECKER MUSCULAR-DYSTROPHY PATIENTS
    SHOMRAT, R
    GLUCK, E
    LEGUM, C
    SHILOH, Y
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1994, 49 (04): : 369 - 373
  • [35] Low proportion of dystrophin gene deletions among Filipino Duchenne and Becker muscular dystrophy patients.
    Cutiongco, EC
    Cavan, BC
    Abaya, EC
    Silao, CL
    Padilla, CD
    Nishio, H
    Matsuo, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 546 - 546
  • [36] Direct carriers detection in Duchenne/Becker muscular dystrophy families with deletions in the dystrophin gene
    Bisko, M
    Zimowski, JG
    Fidziañska, E
    Hausmanowa-Petrusewicz, I
    Zaremba, J
    EUROPEAN JOURNAL OF HUMAN GENETICS, 1998, 6 : 122 - 122
  • [37] GENE DIAGNOSIS OF DUCHENNE MUSCULAR-DYSTROPHY AND BECKER MUSCULAR-DYSTROPHY WITH DYSTROPHIN CDNA AND GENOMIC CLONE PROBES
    ZHANG, JW
    WU, GY
    ZHAO, YJ
    CHU, WM
    LIU, JZ
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 208 - 208
  • [38] Novel mutation in exon 56 of the dystrophin gene in a child with Duchenne muscular dystrophy
    Zhu, Jian-Fang
    Liu, Hui-Hui
    Zhou, Tao
    Tian, Li
    INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2013, 32 (05) : 1166 - 1170
  • [39] Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy
    Taylor, Peter J.
    Betts, Grant A.
    Maroulis, Sarah
    Gilissen, Christian
    Pedersen, Robyn L.
    Mowat, David R.
    Johnston, Heather M.
    Buckley, Michael F.
    PLOS ONE, 2010, 5 (01):
  • [40] Frequency of deletions in dystrophin gene in Mexican patients with muscular dystrophy Duchenne/Becker and carrier status detection.
    Garcia Escalante, G
    Gonzalez-Herrera, L
    Castillo-Zapata, I
    Pinto-Escalante, D
    Gonzalez-Del Angel, A
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 364 - 364
12345