Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations

被引:0
|
作者
Bohm, J. [1 ]
Biancalana, V. [1 ]
Malfatti, E. [2 ]
Taratuto, A. L. [3 ]
Olive, M. [4 ]
Eymard, B. [2 ]
Weis, J. [5 ]
Romero, N. B. [2 ]
Laporte, J. [1 ]
机构
[1] IGBMC, Illkirch Graffenstaden, France
[2] Inst Myol, Paris, France
[3] Neurol Res Inst, Buenos Aires, DF, Argentina
[4] Inst Neuropatol, Barcelona, Spain
[5] Inst Neuropathol, Aachen, Germany
关键词
D O I
10.1016/j.nmd.2014.06.052
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
G.P.38
引用
收藏
页码:806 / 806
页数:1
相关论文
共 50 条
  • [31] An early-onset case of adult-onset autosomal dominant leukodystrophy
    Mihashi, Izumi
    Ishii, Kazuhiro
    Hara, Norikazu
    Ikeuchi, Takeshi
    Saiki, Shinji
    NEUROLOGICAL SCIENCES, 2024, 45 (11) : 5543 - 5545
  • [32] Autosomal dominant late adult onset distal leg myopathy
    Pénisson-Besnier, I
    Dumez, C
    Chateau, D
    Dubas, F
    Fardeau, M
    NEUROMUSCULAR DISORDERS, 1998, 8 (07) : 459 - 466
  • [33] Identification of the gene responsible for the autosomal dominant form of centronuclear myopathy
    Bitoun, M
    Maugenre, S
    Jeannet, PY
    Ferrer, X
    Laforêt, P
    Fardeau, M
    Eymard, B
    Romero, N
    Guicheney, P
    NEUROMUSCULAR DISORDERS, 2005, 15 (9-10) : 716 - 716
  • [34] Autosomal dominant proximal spinal muscular atrophy of adult-onset
    Uyama, E
    Yamaguchi, K
    Shimamura, M
    Imamura, S
    Uchino, M
    NEUROMUSCULAR DISORDERS, 2001, 11 (6-7) : 649 - 649
  • [35] MRI and CT in an autosomal-dominant, adult-onset leukodystrophy
    M. Bergui
    G. B. Bradac
    S. Leombruni
    G. Vaula
    G. Quattrocolo
    Neuroradiology, 1997, 39 : 423 - 426
  • [36] An autosomal dominant early adult-onset distal muscular dystrophy
    Zimprich, F
    Djamshidian, A
    Hainfellner, JA
    Budka, H
    Zeitlhofer, J
    MUSCLE & NERVE, 2000, 23 (12) : 1876 - 1879
  • [37] Mutations in dynamin 2 cause dominant centronuclear myopathy
    Bitoun, M
    Maugenre, S
    Jeannet, PY
    Lacène, E
    Ferrer, X
    Laforêt, P
    Martin, JJ
    Laporte, J
    Lochmüller, H
    Beggs, AH
    Fardeau, M
    Eymard, B
    Romero, NB
    Guicheney, P
    NATURE GENETICS, 2005, 37 (11) : 1207 - 1209
  • [38] Adult-Onset Autosomal Dominant Leukodystrophy as a Multiple Sclerosis Mimic
    Beary, Jonathan
    Conway, Devon
    NEUROLOGY, 2013, 80
  • [39] Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy
    Guaraldi, Pietro
    Donadio, Vincenzo
    Capellari, Sabina
    Contin, Manuela
    Casadio, Maria Chiara
    Montagna, Pasquale
    Liguori, Rocco
    Cortelli, Pietro
    AUTONOMIC NEUROSCIENCE-BASIC & CLINICAL, 2011, 159 (1-2): : 123 - 126
  • [40] MRI and CT in an autosomal-dominant, adult-onset leukodystrophy
    Bergui, M
    Bradac, GB
    Leombruni, S
    Vaula, G
    Quattrocolo, G
    NEURORADIOLOGY, 1997, 39 (06) : 423 - 426