One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.

Karien EsterhuizenJ Zander LindequeShayne MasonFrancois H van der WesthuizenRichard J RodenburgPaul de LaatJan A M SmeitinkMirian C H JanssenRoan Louw

Published in: Metabolomics : Official journal of the Metabolomic Society (2021)

We conclude by giving novel insight on the phenotypes of the m.3243A > G mutation from a metabolomics point of view. Directives are also given for future investigations that could lead to better treatment options for patients suffering from this debilitating disease.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
mass spectrometry
prognostic factors
late onset
patient reported outcomes