LQT9

Long QT Syndrome Microchapters
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[1]
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2]

LQT9

Type	OMIM	Mutation
LQT9		Caveolin 3

This newly discovered variant is caused by mutations in the membrane structural protein,caveolin-3. Caveolins form specific membrane domains calledcaveolae in which among others the Na_V1.5 voltage-gated sodium channelsits. Similar to LQT3, these particular mutations increase so-called 'late' sodium current which impairs cellular repolarization.