Unexpected partial RNA deletion by two different novel COL6A2 mutations leads to Ullrich congenital muscular dystrophy

被引：0
|
作者：
Xu, S. [1 ]
Li, L. [2 ,3 ]
Shen, L. [2 ,3 ]
Wang, X. [2 ,3 ]
Feng, W. [1 ]
Liu, S. [2 ,3 ,4 ]
机构：
[1] Qingdao Univ, Affiliated Hosp, Dept Anesthesiol, Qingdao, Peoples R China
[2] Qingdao Univ, Affiliated Hosp, Med Genet Dept, Qingdao, Peoples R China
[3] Qingdao Univ, Affiliated Hosp, Prenatal Diag Ctr, Qingdao, Peoples R China
[4] Qingdao Univ, Affiliated Hosp, Med Genet Dept, 16 Jiangsu Rd, Qingdao, Shandong, Peoples R China
来源：
QJM-AN INTERNATIONAL JOURNAL OF MEDICINE | 2024年 / 117卷 / 01期
基金：
中国国家自然科学基金;
关键词：
D O I：
10.1093/qjmed/hcad209
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：61 / 62
页数：2
相关论文
共 50 条
  • [1] Ullrich congenital muscular dystrophy caused by two novel mutations in COL6A3
    Brunn, A
    Ratke, J
    Herrmann, R
    Voit, T
    NEUROMUSCULAR DISORDERS, 2004, 14 (8-9) : 615 - 615
  • [2] Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy
    Zhang, RZ
    Sabatelli, P
    Pan, TC
    Squarzoni, S
    Mattioli, E
    Bertini, E
    Pepe, G
    Chu, ML
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2002, 277 (46) : 43557 - 43564
  • [3] Spectrum of COL6A1 mutations in patients with Ullrich congenital muscular dystrophy
    Richard, P.
    Ledeuil, C.
    Gartioux, C.
    Torrieri, L.
    Brinas, L.
    Ferreiro, A.
    Toutain, A.
    Makri, S.
    Ollagnon, E.
    Eymard, B.
    Quijano-Roy, S.
    Estournet, B.
    Guicheney, P.
    Allamand, V.
    NEUROMUSCULAR DISORDERS, 2007, 17 (9-10) : 845 - 845
  • [4] Effect on collagen VI extra-cellular assembly of COL6A1 and COL6A2 C-terminal mutations in Ullrich congenital muscular dystrophy
    Sabatelli, P.
    Zou, Y.
    Squarzoni, S.
    Boennemann, C.
    Merlini, L.
    Pepe, G.
    Giusti, B.
    Petrini, S.
    Bertini, E.
    Sudano, D.
    Chu, M. L.
    Maraldi, N. M.
    NEUROMUSCULAR DISORDERS, 2006, 16 (9-10) : 714 - 714
  • [5] Recessive COL6A2 C-globular Missense Mutations in Ullrich Congenital Muscular Dystrophy ROLE OF THE C2a SPLICE VARIANT
    Zhang, Rui-Zhu
    Zou, Yaqun
    Pan, Te-Cheng
    Markova, Dessislava
    Fertala, Andrzej
    Hu, Ying
    Squarzoni, Stefano
    Reed, Umbertina Conti
    Marie, Suely K. N.
    Boennemann, Carsten G.
    Chu, Mon-Li
    JOURNAL OF BIOLOGICAL CHEMISTRY, 2010, 285 (13) : 10005 - 10015
  • [6] Effect on collagen VI extra-cellular assembly of COL6AI and COL6A2 C-terminal mutations in Ullrich congenital muscular dystrophy
    Merlini, Luciano
    Patrizia, Sabatelli
    Squarzoni, Stefano
    Ravaioli, Stefano
    Mattiolia, Elisabetta
    Bertini, Enrico
    Petrini, Stefania
    Bonnemann, Carsten
    Maraldi, Nadir Mario
    Pepe, Guglielmina
    Giusti, Betti
    Lucarini, Laura
    NEUROMUSCULAR DISORDERS, 2006, 16 : S85 - S85
  • [7] Normal collagen VI immunolabelling in Ullrich congenital muscular dystrophy with COL6 mutations
    Jimenez-Mallebrera, C
    Maioli, M
    Feng, L
    Brown, SC
    Lampe, AK
    Bushby, K
    Flanigan, K
    Weiss, B
    Bönnemann, C
    Mercuri, E
    Torelli, S
    Sewry, CA
    Muntoni, F
    NEUROMUSCULAR DISORDERS, 2004, 14 (8-9) : 614 - 615
  • [8] Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report
    Li, Jiayi
    Lin, Shuangzhu
    Wu, Qiong
    Feng, Jinhua
    Chen, Qiandui
    Jiang, Kai
    MEDICINE, 2023, 102 (49) : E36398
  • [9] Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy
    Demir, E
    Sabatelli, P
    Allamand, V
    Ferreiro, A
    Moghadaszadeh, B
    Makrelouf, M
    Topaloglu, H
    Echenne, B
    Merlini, L
    Guicheney, P
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (06) : 1446 - 1458
  • [10] Exploring The Therapeutic Potential Of Aav-mediated Restoration Of Col6a2 In A Mouse Model Of Ullrich Muscular Dystrophy
    Havens, Julian R.
    Prasad, Vikram
    Blair, Scott
    Molkentin, Jeff D.
    CIRCULATION RESEARCH, 2023, 133
12345