Article
Sudden adult death syndrome in m.3243A>G-related mitochondrial disease: an unrecognized clinical entity in young, asymptomatic adults.
European heart journal - 21 Aug 2016
Ng Yi Shiau, Grady John P, Lax Nichola Z, Bourke John P, Alston Charlotte L, Hardy Steven A, Falkous Gavin, Schaefer Andrew G, Radunovic Aleksandar, Mohiddin Saidi A, Ralph Matilda, Alhakim Ali, Taylor Robert W, McFarland Robert, Turnbull Douglass M, Gorman Gráinne S
Abstract excerpt
AIMS: To provide insight into the mechanism of sudden adult death syndrome (SADS) and to give new clinical guidelines for the cardiac management of patients with the most common mitochondrial DNA mutation, m.3243A>G. These studies were initiated after two young, asymptomatic adults harbouring the m.3243A>G mutation died suddenly and unexpectedly. The m.3243A>G mutation is present in ∼1 in 400 of the population,...
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