Diagnosis of X-linked myotubular myopathy by detection of the implicated protein (myotubularin), and genotype/phenotype correlation in mild cases.

被引:0
|
作者
Laporte, J [1 ]
Blondeau, F [1 ]
Buj-Bello, A [1 ]
Kretz, C [1 ]
Mandel, JI [1 ]
机构
[1] ULP, Inst Genet & Biol Mol & Cellulaire, CNRS, INSERM, F-67404 Illkirch, France
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
1727
引用
收藏
页码:A307 / A307
页数:1
相关论文
共 50 条
  • [1] Diagnosis of X-linked myotubular myopathy by detection of myotubularin
    Laporte, J
    Kress, W
    Mandel, JL
    ANNALS OF NEUROLOGY, 2001, 50 (01) : 42 - 46
  • [2] Genotype-phenotype correlations in X-linked myotubular myopathy
    McEntagart, M
    Parsons, G
    Buj-Bello, A
    Biancalana, V
    Fenton, I
    Little, M
    Krawczak, M
    Thomas, N
    Herman, G
    Clarke, A
    Wallgren-Petterson, C
    NEUROMUSCULAR DISORDERS, 2002, 12 (10) : 939 - 946
  • [3] A novel antibody for rapid diagnosis of X-linked myotubular myopathy by immunodetection of myotubularin
    Buj-Bello, A
    Laporte, J
    Duval, G
    Mandel, JL
    NEUROMUSCULAR DISORDERS, 2004, 14 (8-9) : 589 - 589
  • [4] X-linked myotubular myopathy: a clinical report and a review of the mild phenotype
    Barreto-Mota, Ricardo
    Figueirinha, Joana
    Quental, Rita
    Fonseca, Jacinta
    Melo, Claudia
    Sampaio, Mafalda
    Sousa, Raquel
    REVISTA DE NEUROLOGIA, 2023, 76 (07) : 243 - 246
  • [5] Prenatal diagnosis of X-linked myotubular myopathy
    Chen, Chih-Ping
    Lin, Shuan-Pei
    Chern, Schu-Rern
    Tsai, Fuu-Jen
    Wang, Tao-Yeuan
    Lin, Hung-Hung
    Wang, Wayseen
    PRENATAL DIAGNOSIS, 2010, 30 (02) : 177 - 179
  • [6] Immunodetection of myotubularin in human tissues: A diagnostic tool for X-linked myotubular myopathy
    Al-Qusairi, L.
    Bui, M. T.
    Kretz, C.
    Tomczak, K.
    Furling, D.
    Beggs, A. H.
    Mandel, J. L.
    Romero, N.
    Laporte, J.
    Bello, A. Buj
    NEUROMUSCULAR DISORDERS, 2009, 19 (8-9) : 635 - 635
  • [7] X-linked myotubular myopathy: a report of five cases
    Coelho, J.
    Santos, T. Proenca
    Moreno, T.
    NEUROMUSCULAR DISORDERS, 2017, 27 : S171 - S172
  • [8] Phosphatase inactive myotubularin rescues X-linked centronuclear (myotubular) myopathy phenotypes in mice
    Amoasii, L.
    Bertazzi, D.
    Hnia, K.
    Tronchere, H.
    Rinaldi, B.
    Chicanne, G.
    Cowling, B. S.
    Ferry, A.
    Payrastre, B.
    Laporte, J.
    Friant, S.
    NEUROMUSCULAR DISORDERS, 2012, 22 (9-10) : 843 - 844
  • [9] Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy
    deGouyon, BM
    Zhao, W
    Laporte, J
    Mandel, JL
    Metzenberg, A
    Herman, GE
    HUMAN MOLECULAR GENETICS, 1997, 6 (09) : 1499 - 1504
  • [10] Muscle-Specific Expression of Myotubularin Corrects the Phenotype of Targeted Muscles in Mouse Models of X-linked Myotubular Myopathy
    Jamet, Thibaud
    Guerchet, Nicolas
    Douar, Anne
    Mandel, Jean-Louis
    Fougerousse, Francoise
    Buj-Bello, Anna
    HUMAN GENE THERAPY, 2010, 21 (06) : 772 - 772