Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease

被引:11
|
作者
Koutsis, Georgios [1 ,2 ]
Pandraud, Amelie [2 ]
Polke, James M. [3 ]
Wood, Nicholas W. [2 ,3 ]
Panas, Marios [1 ]
Karadima, Georgia [1 ]
Houlden, Henry [2 ,3 ]
机构
[1] Univ Athens, Sch Med, Eginitio Hosp, Dept Neurol, Athens 11528, Greece
[2] UCL Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
[3] Natl Hosp Neurol & Neurosurg, Neurogenet Lab, Dept Mol Neurosci, London WC1N 3BG, England
基金
英国惠康基金; 英国医学研究理事会;
关键词
MUTATIONS; NEUROPATHY; GENES; DELETION; MPZ; CX32; GJB1;
D O I
10.1093/brain/aws034
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
页数:6
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