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

被引：38

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

来源：

JOURNAL OF INVESTIGATIVE DERMATOLOGY | 2010年 / 130卷 / 04期

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

页码：1178 / 1181

页数：4

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