A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck.

by Francesco Pallotti, Giorgio Binelli, Raffaella Fabbri, Maria L Valentino, Rossella Vicenti, Maria Macciocca, Sabina Cevoli, Agostino Baruzzi, Salvatore DiMauro, Valerio Carelli
Published 2014-01-01

Brain MRS correlates with mitochondrial dysfunction biomarkers in MELAS‐associated mtDNA mutations

by Laura L. Gramegna, Stefania Evangelisti, Lidia Di Vito, Chiara La Morgia, Alessandra Maresca, Leonardo Caporali, Giulia Amore, Lia Talozzi, Claudio Bianchini, Claudia Testa, David N. Manners, Irene Cortesi, Maria L. Valentino, Rocco Liguori, Valerio Carelli, Caterina Tonon, Raffaele Lodi
Published 2021-06-01