Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation

被引：8
|
作者：
Romero, Norma Beatriz [1 ]
Bevilacqua, Jorge A. [2 ]
Oldfors, Anders [3 ]
Fardeau, Michel [1 ]
机构：
[1] Grp Hosp Univ Pitie Salpetriere, Inst Myol, Paris, France
[2] Univ Chile, Santiago, Chile
[3] Univ Gothenburg, Gothenburg, Sweden
来源：
NEUROMUSCULAR DISORDERS | 2011年 / 21卷 / 02期
关键词：
D O I：
10.1016/j.nmd.2010.11.009
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：148 / 148
页数：1
相关论文
共 50 条
  • [31] Skeletal muscle reduction of Dnm2 with antisense oligonucleotides in myotubular myopathy
    Buono, S.
    Robe, A.
    Oca, R. Gomez
    Koch, C.
    Guo, S.
    Depla, M.
    Monia, B.
    Laporte, J.
    Thielemans, L.
    Cowling, B.
    NEUROMUSCULAR DISORDERS, 2019, 29 : S78 - S79
  • [32] Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes
    Rabai, Aymen
    Reisser, Lea
    Reina-San-Martin, Bernardo
    Mamchaoui, Kamel
    Cowling, Belinda S.
    Nicot, Anne-Sophie
    Laporte, Jocelyn
    MOLECULAR THERAPY-NUCLEIC ACIDS, 2019, 16 : 246 - 256
  • [33] Clinical changes over time in patients with centronuclear myopathy due to mutations in DNM2 gene enrolled in a European prospective natural history study
    Annoussamy, M.
    Baets, J.
    De Ridder, W.
    Duchene, D.
    Grange, A.
    Linen, C.
    Che, V.
    Gidaro, T.
    Seferian, A.
    Behin, A.
    Voermans, N.
    Bitoun, M.
    Hogrel, J. -Y.
    Freitag, C.
    Paradis, K.
    Thielemans, L.
    Van Rooijen, S.
    Servais, L.
    NEUROMUSCULAR DISORDERS, 2019, 29 : S79 - S80
  • [34] Autosomal dominant centronuclear myopathy caused by variants in the DNM2 gene - Results of an international, prospective natural history study
    Braun, F.
    Seferian, A.
    Behin, A.
    Fer, F.
    Peretti, M.
    Duchene, D.
    Schara-Schmidt, U.
    Annoussamy, M.
    Baets, J.
    Servais, L.
    NEUROMUSCULAR DISORDERS, 2024, 43
  • [35] A novel dynamin-2 gene mutation associated with a late-onset centronuclear myopathy with unusual clinical presentation and necklace fibres
    Casar-Borota, O.
    Jacobsson, J.
    Libelius, R.
    Moslemi, A. R.
    Hedberg, C.
    Oldfors, A.
    NEUROMUSCULAR DISORDERS, 2012, 22 (9-10) : 843 - 843
  • [36] MRI in DNM2-related centronuclear myopathy:: Evidence for highly selective muscle involvement
    Schessl, Joachim
    Medne, Livija
    Hu, Ying
    Zou, Yaqun
    Brown, Mark J.
    Huse, Jason T.
    Torigian, Drew A.
    Jungbluth, Heinz
    Goebel, Hans-Hilmar
    Boennemann, Carsten G.
    NEUROMUSCULAR DISORDERS, 2007, 17 (01) : 28 - 32
  • [37] ASO-mediated Dnm2 knockdown ameliorates the centronuclear myopathy phenotype of Dnm2RW/+ mice in a dose-dependent manner after disease onset
    Depla, M.
    Robe, A.
    Buono, S.
    Koch, C.
    Bitoun, M.
    Colombo, S.
    Cowling, B.
    NEUROMUSCULAR DISORDERS, 2021, 31 : S58 - S58
  • [38] 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
  • [39] CENTRONUCLEAR MYOPATHY AND SERIOUS CARDIOMYOPATHY DUE TO DYNAMIN-2 MUTATION
    Gal, A.
    Geller, L.
    Pal, E.
    Bereznai, B.
    Szelid, Z.
    Inczedy-Farkas, G.
    Merkely, B.
    Molnar, M. J.
    EUROPEAN JOURNAL OF NEUROLOGY, 2011, 18 : 554 - 554
  • [40] Histopathologic changes in the extraocular muscle in centronuclear myopathy with a Dynamin 2 mutation
    Hanna, Nancy
    Bouhenni, Rachida
    Gupta, Balaji
    Abu-Amero, Khaled K.
    Wollmann, Robert
    Edward, Deepak P.
    OPHTHALMIC GENETICS, 2013, 34 (1-2) : 83 - 86
12345