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PRKAG2心脏综合征的分子遗传学病因及发病机制研究进展 被引量:1

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摘要 PRKAG2心脏综合征是一种少见的常染色体显性遗传性心脏病,主要临床表型包括心室预激、传导系统异常和心肌肥厚。由于编码AMP激活蛋白激酶(AMPK)γ2调节亚基的基因(PRKAG2)突变,导致AMPK活性改变,心肌细胞内糖原储积。因此,PRKAG2心脏综合征被认为是一种新的心脏特异的糖原累积综合征。
作者 陈长源 郑兴
出处 《国际心血管病杂志》 2009年第3期136-138,147,共4页 International Journal of Cardiovascular Disease
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参考文献30

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二级参考文献13

  • 1Gollob MH, Seger JJ, Gollob TN,et al. Novel PRKAG2 mutation in the genetic syndrome of ventricular preexcitation and conduction defects with childhood onset and absence of cardiac hypertrophy.Circulation, 2001,104(25) :3030-3033.
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