X-linked myotubular myopathy due to a complex rearrangement involving exon 10 of the myotubularin (MTM1) gene

被引：0
|
作者：
Trump, N. [1 ]
Cullup, T. [1 ]
Muntoni, F. [2 ]
Verheij, J. [3 ]
Jungbluth, H. [4 ]
机构：
[1] Guys Hosp, Diagnost Genet Lab, GSTS Pathol, London SE1 9RT, England
[2] Dubowitz Neuromuscular Ctr, ICH, London, England
[3] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands
[4] Guys & St Thomas NHS Fdn Trust, Evelina Childrens Hosp, Dept Paediat Neurol, Neuromuscular Serv, London, England
来源：
NEUROMUSCULAR DISORDERS | 2011年 / 21卷 / 9-10期
关键词：
D O I：
10.1016/j.nmd.2011.06.932
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：693 / 693
页数：1
相关论文
共 50 条
  • [41] 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
  • [42] Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene
    Tanner, SM
    Laporte, J
    Guiraud-Chaumeil, C
    Liechti-Gallati, S
    HUMAN MUTATION, 1998, 11 (01) : 62 - 68
  • [43] X-linked myotubular myopathy mimics hereditary spastic paraplegia in two female manifesting carriers of pathogenic MTM1 variant
    Kraatari, Minna
    Tuominen, Hannu
    Tuupanen, Sari
    Haapaniemi, Tarja
    Moilanen, Jukka
    Rahikkala, Elisa
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2020, 63 (11)
  • [44] 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
  • [45] 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
  • [46] Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1
    Hoffjan, Sabine
    Thiels, Charlotte
    Vorgerd, Matthias
    Neuen-Jacob, Eva
    Epplen, Joerg T.
    Kress, Wolfram
    NEUROMUSCULAR DISORDERS, 2006, 16 (11) : 749 - 753
  • [47] Genomic organization of a 225-kb region in Xq28 containing the gene for X-linked myotubular myopathy (MTM1) and a related gene (MTMR1)
    Kioschis, P
    Wiemann, S
    Heiss, NS
    Francis, F
    Götz, C
    Poustka, A
    Taudien, S
    Platzer, M
    Wiehe, T
    Beckmann, G
    Weber, J
    Nordsiek, G
    Rosenthal, A
    GENOMICS, 1998, 54 (02) : 256 - 266
  • [48] A Deep Intronic Variant Activates a Pseudoexon in the MTM1Gene in a Family with X-Linked Myotubular Myopathy
    Fitzgerald, Jamie
    Feist, Cori
    Dietz, Paula
    Moore, Stephen
    Basel, Donald
    MOLECULAR SYNDROMOLOGY, 2020, 11 (5-6) : 264 - 270
  • [49] Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy (vol 17, pg 562, 2007)
    Pierson, Christopher R.
    Agrawal, Pankaj B.
    Blasko, Jessica
    Beggs, Alan H.
    NEUROMUSCULAR DISORDERS, 2008, 18 (06) : 519 - 519
  • [50] A novel mutation in exon b (R253C) of the MTM1 gene is associated with a mild myotubular myopathy
    Donnelly, A
    Haan, E
    Manson, J
    Mulley, J
    HUMAN MUTATION, 1998, 11 (04) : 334 - 334
12345