Hereditary rippling muscle disease is caused by caveolin-3 mutations.

被引：0
|
作者：
Kubisch, C
Betz, R
Schoser, B
Kasper, D
Ricker, K
Ramirez, A
Stein, V
Torbergsen, T
Lee, YA
Noethen, M
Wienker, T
Malin, JP
Propping, P
Reis, A
Mortier, W
Jentsch, T
Vorgerd, M
机构：
[1] Univ Bonn, Inst Human Genet, D-5300 Bonn, Germany
[2] Univ Hamburg, Ctr Mol Neurobiol, D-2000 Hamburg, Germany
[3] Univ Wurzburg, Dept Neurol, D-8700 Wurzburg, Germany
[4] Univ Tromso, Dept Neurol, Tromso, Norway
[5] Univ Berlin, Gene Mapping Ctr, Berlin, Germany
[6] Univ Bonn, IMBIE, D-5300 Bonn, Germany
[7] Ruhr Univ Bochum, Dept Neurol, D-4630 Bochum, Germany
[8] Ruhr Univ Bochum, Dept Pediat, D-4630 Bochum, Germany
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2001年 / 69卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
2688
引用
收藏
页码：638 / 638
页数：1
相关论文
共 50 条
  • [11] Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis
    Ueyama, H.
    Horinouchi, H.
    Obayashi, K.
    Hashinaga, M.
    Okazaki, T.
    Kumamoto, T.
    NEUROMUSCULAR DISORDERS, 2007, 17 (07) : 558 - 561
  • [12] Restriction of immunoreactive caveolin-3 to regenerating skeletal muscle fibers in a patient with rippling muscle disease
    Sinnreich, M
    Holland, P
    Stewart, J
    Nafissi, S
    Karpati, G
    NEUROLOGY, 2005, 64 (06) : A338 - A338
  • [13] Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease
    Van den Bergh, PYK
    Gérard, JM
    Elosegi, JA
    Manto, MU
    Kubisch, C
    Schoser, BGH
    JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2004, 75 (09): : 1349 - 1351
  • [14] Novel missense mutation in the caveolin-3 gene in a Belgian patient with rippling muscle disease
    Van den Bergh, PYK
    Manto, MU
    Kubisch, C
    Schoser, BGH
    NEUROMUSCULAR DISORDERS, 2003, 13 (7-8) : 649 - 649
  • [15] A case of familial Rippling muscle disease showing decreased of caveolin-3 in muscle biopsy suggesting an immunologic mechanism
    Arahata, H.
    Furuya, H.
    Kinoshita, M.
    Fujii, N.
    NEUROMUSCULAR DISORDERS, 2013, 23 (9-10) : 845 - 845
  • [16] A Case of Familial Rippling Muscle Disease Showing Mosaic Pattern of Caveolin-3 in Muscle Biopsy Suggesting an Immunologic Mechanism
    Furuya, Hirokazu
    Arahata, Hajime
    Furuta, Konosuke
    Shibata, Hiroki
    Fujii, Naoki
    ANNALS OF NEUROLOGY, 2017, 82 : S83 - S83
  • [17] Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation
    Madrid, RE
    Kubisch, C
    Hays, AP
    NEUROLOGY, 2005, 65 (08) : 1301 - 1303
  • [18] Mosaic caveolin-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor autoantibodies
    Lo, Harriet P.
    Bertini, Enrico
    Mirabella, Massimiliano
    Domazetovska, Ana
    Dale, Russell C.
    Petrini, Stefania
    D'Amico, Adele
    Valente, Enza Maria
    Barresi, Rita
    Roberts, Mark
    Tozzi, Giulia
    Tasca, Giorgio
    Cooper, Sandra T.
    Straub, Volker
    North, Kathryn N.
    NEUROMUSCULAR DISORDERS, 2011, 21 (03) : 194 - 203
  • [19] Partial caveolin 3 deficiency in acquired rippling muscle disease
    Mirabella, M.
    Charlton, R.
    Valente, E. M.
    Petrini, S.
    d'Amico, A.
    Roberts, M.
    Ricci, E.
    De Benedetti, F.
    Barresi, R.
    Bertini, E.
    Straub, V.
    NEUROMUSCULAR DISORDERS, 2008, 18 (9-10) : 767 - 768
  • [20] Caveolin-3 and Caveolin-1 Interaction Decreases Channel Dysfunction Due to Caveolin-3 Mutations
    Benzoni, Patrizia
    Gazzerro, Elisabetta
    Fiorillo, Chiara
    Baratto, Serena
    Bartolucci, Chiara
    Severi, Stefano
    Milanesi, Raffaella
    Lippi, Melania
    Langione, Marianna
    Murano, Carmen
    Meoni, Clarissa
    Popolizio, Vera
    Cospito, Alessandro
    Baruscotti, Mirko
    Bucchi, Annalisa
    Barbuti, Andrea
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2024, 25 (02)
12345