Article
Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load.
Neuromuscular disorders : NMD - 1 Jul 2012
Hollingsworth Kieren G, Gorman Grainne S, Trenell Michael I, McFarland Robert, Taylor Robert W, Turnbull Douglass M, MacGowan Guy A, Blamire Andrew M, Chinnery Patrick F
Abstract excerpt
Although neuromuscular clinical features often dominate the clinical presentation of mitochondrial disease due to the m.3243A>G mitochondrial DNA (mtDNA) mutation, many patients develop cardiac failure, which is often overlooked until it reaches an advanced stage. We set out to determine whether cardiac complications are sufficiently common to warrant prospective screening in all mutation carriers. Routine...
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