Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load

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...

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Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Pergamon Press 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3387369/
https://ncbi.nlm.nih.gov/pubmed/22513320
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2012.03.001
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