A novel mutation in the mitochondrial MTND5 gene in a family with MELAS. The relevant of genetic analysis on target tissues.

Panadés-de Oliveira L, Montoya J, Emperador S, Ruiz-Pesini E, Jericó I, Arenas J, Hernández-Lain A, Blázquez A, Martín MA, Domínguez-González C. Mitochondrion. 2019 doi: 10.1016/j.mito.2019.10.001