CANINE HEALTH Identification of the mutation causing centronuclear myopathy in a border collie

被引：2
|
作者：
Eminaga, Salih [1 ]
Cherubini, Giunio Bruto [2 ]
Shelton, G. Diane [3 ]
机构：
[1] Univ Wisconsin, Sch Vet Med, Madison, WI 53706 USA
[2] Dick White Referrals, Stn Farm, Six Mile Bottom CB8 0UH, Cambs, England
[3] Univ Calif San Diego, Dept Pathol, La Jolla, CA 92093 USA
来源：
VETERINARY RECORD | 2014年 / 175卷 / 05期
关键词：
D O I：
10.1136/vr.g4883
中图分类号：
S85 [动物医学（兽医学）];
学科分类号：
0906 ;
摘要：
引用
收藏
页数：1
相关论文
共 50 条
  • [21] A dog model for centronuclear myopathy carrying the most common DNM2 mutation
    Bohm, Johann
    Barthelemy, Ines
    Landwerlin, Charlene
    Blanchard-Gutton, Nicolas
    Relaix, Frederic
    Blot, Stephane
    Laporte, Jocelyn
    Tiret, Laurent
    DISEASE MODELS & MECHANISMS, 2022, 15 (04)
  • [22] Centronuclear myopathy with BIN1-like myopathology and DNM2 mutation
    Rosa, T.
    Domingues, J.
    Martins, C., Jr.
    Domingos, J.
    Iwabe-Marchese, C.
    Pacheco, E.
    Queiroz, L.
    Franca, M., Jr.
    Nucci, A.
    NEUROMUSCULAR DISORDERS, 2018, 28 : S74 - S74
  • [23] Case of dynamin 2 mutation-related sporadic centronuclear myopathy with peripheral neuropathy
    Kawasaki, Yuko
    Naba, Ichiro
    Azuma, Shingo
    Yaka, Keiko
    Moriya, Masayuki
    Nakano, Misa
    Nishino, Ichizo
    Tatsumi, Chikao
    NEUROLOGY AND CLINICAL NEUROSCIENCE, 2015, 3 (04): : 131 - 133
  • [24] Late Onset Centronuclear Myopathy Due to Dynamin-2 Mutation: Case Report
    Ciarlini, Pedro
    Amato, Anthony
    Folkerth, Rebecca
    De Girolami, Umberto
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2013, 72 (06): : 586 - 586
  • [25] A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells
    James, Nicholas G.
    Digman, Michelle A.
    Ross, Justin A.
    Barylko, Barbara
    Wang, Lei
    Li, Jinhui
    Chen, Yan
    Mueller, Joachim D.
    Gratton, Enrico
    Albanesi, Joseph P.
    Jameson, David M.
    BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS, 2014, 1840 (01): : 315 - 321
  • [26] A dog model for centronuclear myopathy carrying the most common DNM2 mutation
    Bohm, J.
    Barthelemy, I.
    Blot, S.
    Tiret, L.
    Laporte, J.
    NEUROMUSCULAR DISORDERS, 2020, 30 : S75 - S75
  • [27] Insights from genotype-phenotype correlations by novel SPEG mutations causing centronuclear myopathy
    Wang, Haicui
    Castiglioni, Claudia
    Bayram, Ayse Kacar
    Fattori, Fabiana
    Pekuz, Serdar
    Araneda, Diego
    Per, Huseyin
    Erazo, Ricardo
    Gumus, Hakan
    Zorludemir, Suzan
    Becker, Kerstin
    Ortega, Ximena
    Alfredo Bevilacqua, Jorge
    Bertini, Enrico
    Cirak, Sebahattin
    NEUROMUSCULAR DISORDERS, 2017, 27 (09) : 836 - 842
  • [28] Magnetic resonance imaging of muscle in centronuclear myopathy associated with DNM2 mutation
    Schessl, Joachim
    Medne, Livija
    Hu, Ying
    Zou, Yaqun
    Brown, Mark J.
    Huse, Jason T.
    Torigian, Drew A.
    Jungbluth, Heinz
    Goebel, Hans-Hilmar
    Bonnemann, Carsten G.
    NEUROMUSCULAR DISORDERS, 2006, 16 : S109 - S109
  • [29] Centronuclear myopathy with cataracts due to a novel dynamin 2 (DNM2) mutation
    Jungbluth, Heinz
    Cullup, Tom
    Lillis, Suzanne
    Zhou, Haiyan
    Abbs, Stephen
    Sewry, Caroline
    Muntoni, Francesco
    NEUROMUSCULAR DISORDERS, 2010, 20 (01) : 49 - 52
  • [30] The cnm locus, a canine homologue of human autosomal forms of centronuclear myopathy, maps to chromosome 2
    Tiret, L
    Blot, S
    Kessler, JL
    Gaillot, H
    Breen, M
    Panthier, JJ
    HUMAN GENETICS, 2003, 113 (04) : 297 - 306
12345