期刊
JOURNAL OF PHYSIOLOGY-LONDON
卷 586, 期 7, 页码 1785-1789出版社
BLACKWELL PUBLISHING
DOI: 10.1113/jphysiol.2007.148254
关键词
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KCNQ1 is the pore-forming subunit of a channel complex whose expression and function have been rather well characterized in the heart. Almost 300 mutations of KCNQ1 have been identified in patients and a vast majority of the described mutations are linked to the long QT syndrome. Only a few mutations are linked to other pathologies such as atrial fibrillation and the short QT syndrome. However, a considerable amount of work remains to be done to get a clear picture of the molecular mechanisms responsible for the pathogenesis related to each mutation. The present review gives three examples of recent studies towards this goal and illustrates the diversity of the molecular mechanisms involved.
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