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
  • [41] Mutations in dynamin 2 cause dominant centronuclear myopathy
    Marc Bitoun
    Svetlana Maugenre
    Pierre-Yves Jeannet
    Emmanuelle Lacène
    Xavier Ferrer
    Pascal Laforêt
    Jean-Jacques Martin
    Jocelyn Laporte
    Hanns Lochmüller
    Alan H Beggs
    Michel Fardeau
    Bruno Eymard
    Norma B Romero
    Pascale Guicheney
    Nature Genetics, 2005, 37 : 1207 - 1209
  • [42] Mutations in dynamin 2 cause dominant centronuclear myopathy
    Bitoun, M
    Romero, NB
    Guicheney, P
    M S-MEDECINE SCIENCES, 2006, 22 (02): : 101 - 102
  • [43] BIN1 founder mutation in the Spanish gypsy population is the most frequent cause of adult onset centronuclear myopathies in the south of Spain
    Cabrera-Serrano, M.
    Rivas-Infante, E.
    Mavillard, F.
    Morar, B.
    Comas, D.
    Carvajal, A.
    Avila, R.
    Muelas, N.
    Olive, M.
    Diaz, J.
    Verges, E.
    Romero, N.
    Laporte, J.
    Vilchez, J.
    Laing, N.
    Kalaydjieva, L.
    Paradas, C.
    NEUROMUSCULAR DISORDERS, 2017, 27 : S172 - S173
  • [44] Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy
    Mezaki, Naomi
    Miura, Takeshi
    Ogaki, Kotaro
    Eriguchi, Makoto
    Mizuno, Yuri
    Komatsu, Kenichi
    Yamazaki, Hiroki
    Suetsugi, Natsuki
    Kawajiri, Sumihiro
    Yamasaki, Ryo
    Ishiguro, Takanobu
    Konno, Takuya
    Nozaki, Hiroaki
    Kasuga, Kensaku
    Okuma, Yasuyuki
    Kira, Jun-Ichi
    Hara, Hideo
    Onodera, Osamu
    Ikeuchi, Takeshi
    NEUROLOGY-GENETICS, 2018, 4 (06)
  • [45] Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy
    Columbaro, Marta
    Mattioli, Elisabetta
    Maraldi, Nadir M.
    Ortolani, Michela
    Gasparini, Laura
    D'Apice, Maria Rosaria
    Postorivo, Diana
    Nardone, Anna Maria
    Avnet, Sofia
    Cortelli, Pietro
    Liguori, Rocco
    Lattanzi, Giovanna
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2013, 1832 (03): : 411 - 420
  • [46] Altered Splicing of the BIN1 Muscle-Specific Exon in Humans and Dogs with Highly Progressive Centronuclear Myopathy
    Boehm, Johann
    Vasli, Nasim
    Maurer, Marie
    Cowling, Belinda
    Shelton, G. Diane
    Kress, Wolfram
    Toussaint, Anne
    Prokic, Ivana
    Schara, Ulrike
    Anderson, Thomas James
    Weis, Joachim
    Tiret, Laurent
    Laporte, Jocelyn
    PLOS GENETICS, 2013, 9 (06):
  • [47] Autosomal dominant centronuclear myopathy: Clinical and morphological analysis in 11 families
    Jeannet, PY
    Romero, NB
    Ferrer, X
    Guicheney, P
    Urtizberea, JA
    Fardeau, M
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2002, 199 : S18 - S18
  • [48] ADULT-ONSET MITOCHONDRIAL MYOPATHY
    FERNANDEZSOLA, J
    CASADEMONT, J
    GRAU, JM
    GRAUS, F
    CARDELLACH, F
    PEDROL, E
    URBANOMARQUEZ, A
    POSTGRADUATE MEDICAL JOURNAL, 1992, 68 (797) : 212 - 215
  • [49] Adult-onset polyglucosan myopathy
    Akman, Hasan O.
    Kaminska, Anna
    Kostera-Pruszczyk, Anna
    Fidzianska, Anna
    DiMauro, Salvatore
    NEUROMUSCULAR DISORDERS, 2006, 16 : S158 - S158
  • [50] Adult-Onset Autosomal Dominant Leukodystrophy: Linking Nuclear Envelope to Myelin
    Lin, Shu-Ting
    Ptacek, Louis J.
    Fu, Ying-Hui
    JOURNAL OF NEUROSCIENCE, 2011, 31 (04): : 1163 - 1166