CENTRONUCLEAR MYOPATHY AND SERIOUS CARDIOMYOPATHY DUE TO DYNAMIN-2 MUTATION

被引:0
|
作者
Gal, A. [1 ]
Geller, L. [2 ]
Pal, E. [3 ]
Bereznai, B. [1 ]
Szelid, Z. [2 ]
Inczedy-Farkas, G. [1 ]
Merkely, B. [2 ]
Molnar, M. J. [1 ]
机构
[1] Semmelweis Univ, Clin & Res Ctr Mol Neurol, H-1085 Budapest, Hungary
[2] Semmelweis Univ, Ctr Heart, H-1085 Budapest, Hungary
[3] Univ Pecs, Dept Neurol, Pecs, Hungary
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:554 / 554
页数:1
相关论文
共 50 条
  • [1] 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
  • [2] A NEW CENTRONUCLEAR MYOPATHY PHENOTYPE DUE TO A NOVEL DYNAMIN 2 MUTATION
    Bitoun, M.
    Bevilacqua, J. A.
    Eymard, B.
    Prudhon, B.
    Fardeau, M.
    Guicheney, P.
    Romero, N. B.
    NEUROLOGY, 2009, 72 (01) : 93 - 95
  • [3] Pathologic features of neonatal centronuclear myopathy associated with A618T dynamin-2 mutation
    Nolan, Amber
    Margeta, Marta
    JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 2017, 76 (06): : 508 - 508
  • [4] Non-invasive NMR study of the mouse model for centronuclear myopathy with mutation in the dynamin-2 gene
    Bach, A. Martins
    Matot, B.
    Wary, C.
    Bitoun, M.
    Vaizof, M.
    Carlier, P.
    NEUROMUSCULAR DISORDERS, 2015, 25 : S275 - S275
  • [5] A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with necklace fibres
    Casar-Borota, Olivera
    Jacobsson, Johan
    Libelius, Rolf
    Oldfors, Carola Hedberg
    Malfatti, Edoardo
    Romero, Norma Beatriz
    Oldfors, Anders
    NEUROMUSCULAR DISORDERS, 2015, 25 (04) : 345 - 348
  • [6] 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
  • [7] Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to Ttubule fragmentation
    Chin, Y.
    Lee, A.
    Kan, H.
    Chuang, M.
    Laiman, J.
    Hsieh, S.
    Liu, Y.
    MOLECULAR BIOLOGY OF THE CELL, 2015, 26
  • [8] A Centronuclear Myopathy - Dynamin 2 Mutation Impairs Autophagy in Mice
    Durieux, Anne-Cecile
    Vassilopoulos, Stephane
    Laine, Jeanne
    Fraysse, Bodvael
    Brinas, Laura
    Prudhon, Bernard
    Castells, Josiane
    Freyssenet, Damien
    Bonne, Gisele
    Guicheney, Pascale
    Bitoun, Marc
    TRAFFIC, 2012, 13 (06) : 869 - 879
  • [9] Centronuclear myopathy with cataracts due to a novel heterozygous mutation in the dynamin 2 (DNM2) gene
    Jungbluth, H.
    Cullup, T.
    Lillis, S.
    Zhou, H.
    Sewry, C.
    Abbs, S.
    Muntoni, F.
    NEUROMUSCULAR DISORDERS, 2009, 19 (8-9) : 636 - 636
  • [10] Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation
    Chin, Yu-Han
    Lee, Albert
    Kan, Hung-Wei
    Laiman, Jessica
    Chuang, Mei-Chun
    Hsieh, Sung-Tsang
    Liu, Ya-Wen
    HUMAN MOLECULAR GENETICS, 2015, 24 (19) : 5542 - 5554