Article
Homoplasmic deleterious MT-ATP6/8 mutations in adult patients.
Mitochondrion - 1 Nov 2020
Rucheton Benoit, Jardel Claude, Filaut Sandrine, Amador Maria Del Mar, Maisonobe Thierry, Serre Isabelle, Romero Norma Beatriz, Leonard-Louis Sarah, Haraux Francis, Lombès Anne
Abstract excerpt
To address the frequency of complex V defects, we systematically sequenced MT-ATP6/8 genes in 512 consecutive patients. We performed functional analysis in muscle or fibroblasts for 12 out of 27 putative homoplasmic mutations and in cybrids for four. Fibroblasts, muscle and cybrids with known deleterious mutations underwent parallel analysis. It included oxidative phosphorylation spectrophotometric assays,...
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