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
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
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