Article
Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS-associated mtDNA mutations.
Annals of clinical and translational neurology - 1 Jun 2021
Gramegna Laura L, Evangelisti Stefania, Di Vito Lidia, La Morgia Chiara, Maresca Alessandra, Caporali Leonardo, Amore Giulia, Talozzi Lia, Bianchini Claudio, Testa Claudia, Manners David N, Cortesi Irene, Valentino Maria L, Liguori Rocco, Carelli Valerio, Tonon Caterina, Lodi Raffaele
Abstract excerpt
OBJECTIVE: The purpose of this study was to investigate correlations between brain proton magnetic resonance spectroscopy (1 H-MRS) findings with serum biomarkers and heteroplasmy of mitochondrial DNA (mtDNA) mutations. This study enrolled patients carrying mtDNA mutations associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS), and MELAS-Spectrum Syndrome (MSS)....
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