PLEC1 Mutations Underlie Adult-Onset Dilated Cardiomyopathy in Epidermolysis Bullosa Simplex with Muscular Dystrophy

被引:37
作者
Bolling, Maria C. [1 ]
Pas, Hendri H. [1 ]
de Visser, Marianne [2 ]
Aronica, Eleonora [3 ]
Pfendner, Ellen G. [4 ]
van den Berg, Maarten P. [5 ]
Diercks, Gilles F. H. [1 ,6 ]
Suurmeijer, Albert J. H. [6 ]
Jonkman, Marcel F. [1 ]
机构
[1] Univ Groningen, Dept Dermatol, Univ Med Ctr Groningen, Groningen, Netherlands
[2] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1105 AZ Amsterdam, Netherlands
[3] Univ Amsterdam, Acad Med Ctr, Dept Neuropathol, NL-1105 AZ Amsterdam, Netherlands
[4] Thomas Jefferson Univ, Jefferson Inst Mol Med, DebRA Mol Diagnost Lab, Philadelphia, PA 19107 USA
[5] Univ Groningen, Dept Cardiol, Univ Med Ctr Groningen, Groningen, Netherlands
[6] Univ Groningen, Dept Pathol, Univ Med Ctr Groningen, Groningen, Netherlands
关键词
INTEGRIN ALPHA-6-BETA-4; CYTOSKELETON; ORGANIZATION; ASSOCIATION; SARCOLEMMA; REVEALS; MUSCLE; ACTIN;
D O I
10.1038/jid.2009.390
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
引用
收藏
页码:1178 / 1181
页数:4
相关论文
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