Article
A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues.
Mitochondrion - 1 Jan 2020
Panadés-de Oliveira Luísa, Montoya Julio, Emperador Sonia, Ruiz-Pesini Eduardo, Jericó Ivonne, Arenas Joaquín, Hernández-Lain Aurelio, Blázquez Alberto, Martín Miguel Á, Domínguez-González Cristina
Abstract excerpt
We report the case of two members of the same family with a novel mitochondrial DNA (mtDNA) gene variant in the MT-ND5 gene associated with MELAS syndrome and discuss limitations of genetics studies. The m.13045A > G mutation was detected at very low load in the daughter's urine cells (5%) and at different levels in the skeletal muscle of both mother (50%) and daughter (84%), being absent in blood, hair and...
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