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
来源：
NEUROMUSCULAR DISORDERS | 2014年 / 24卷 / 9-10期
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
  • [21] Modelling autosomal dominant centronuclear myopathy in zebrafish
    Coppens, S.
    Dupuis, E.
    Gillotay, P.
    Costagliola, S.
    NEUROMUSCULAR DISORDERS, 2019, 29 : S81 - S81
  • [22] Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2
    Hohendahl, Annika
    Roux, Aurelien
    Galli, Valentina
    JOURNAL OF STRUCTURAL BIOLOGY, 2016, 196 (01) : 37 - 47
  • [23] Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants
    Fujise, Kenshiro
    Noguchi, Satoru
    Takeda, Tetsuya
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (11)
  • [24] Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset
    Melberg, Atle
    Kretz, Christine
    Kalimo, Hannu
    Wallgren-Pettersson, Carina
    Toussaint, Anne
    Boehm, Johann
    Stalberg, Erik
    Laporte, Jocelyn
    NEUROMUSCULAR DISORDERS, 2010, 20 (01) : 53 - 56
  • [25] Autosomal dominant mutations in the human ryanodine receptor (RYR1) gene associated with centronuclear myopathy
    Jungbluth, H
    Zhou, H
    Bertini, E
    Treves, S
    Sewry, C
    Muntoni, F
    NEUROMUSCULAR DISORDERS, 2005, 15 (9-10) : 681 - 681
  • [26] Autosomal dominant Centronuclear myopathy with unique clinical presentations
    Lee, Jee-Young
    Min, Ju-Hong
    Hong, Yoon-Ho
    Sung, Jung-Joon
    Park, Sung-Hye
    Park, Seong-Ho
    Lee, Kwang-Woo
    Park, Kyung Seok
    JOURNAL OF KOREAN MEDICAL SCIENCE, 2007, 22 (06) : 1098 - 1101
  • [27] Autosomal centronuclear myopathy due to mutations in the skeletal muscle ryanodine receptor gene
    Jungbluth, H
    Zhou, H
    Bertini, E
    Straub, V
    Bushby, K
    Robb, S
    Treves, S
    Sewry, C
    Muntoni, F
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2006, 48 : 30 - 31
  • [28] SEVERE NEONATAL CENTRONUCLEAR MYOPATHY WITH AUTOSOMAL DOMINANT INHERITANCE
    TORRES, CF
    GRIGGS, RC
    GOETZ, JP
    ARCHIVES OF NEUROLOGY, 1985, 42 (10) : 1011 - 1014
  • [29] A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
    Cabrera-Serrano, Macarena
    Mavillard, Fabiola
    Biancalana, Valerie
    Rivas, Eloy
    Morar, Bharti
    Hernandez-Lain, Aurelio
    Olive, Montse
    Muelas, Nuria
    Khan, Eduardo
    Carvajal, Alejandra
    Quiroga, Pablo
    Diaz-Manera, Jordi
    Davis, Mark
    Avila, Rainiero
    Dominguez, Cristina
    Romero, Norma Beatriz
    Vilchez, Juan J.
    Comas, David
    Laing, Nigel G.
    Laporte, Jocelyn
    Kalaydjieva, Luba
    Paradas, Carmen
    NEUROLOGY, 2018, 91 (04) : E339 - E348
  • [30] Mutations in amphiphysin 2 (BIN 1) cause outosomal recessive centronuclear myopathy
    Toussaint, Anne
    Nicot, Anne-Sophie
    Mandel, Jean-Louis
    Laporte, Jocelyn
    M S-MEDECINE SCIENCES, 2007, 23 (12): : 1080 - 1082
12345