Article
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
European journal of human genetics : EJHG - 1 Apr 2018
Kamps Rick, Szklarczyk Radek, Theunissen Tom E, Hellebrekers Debby M E I, Sallevelt Suzanne C E H, Boesten Iris B, de Koning Bart, van den Bosch Bianca J, Salomons Gajja S, Simas-Mendes Marisa, Verdijk Rob, Schoonderwoerd Kees, de Coo Irenaeus F M, Vanoevelen Jo M, Smeets Hubert J M
Abstract excerpt
This study aims to identify gene defects in pediatric cardiomyopathy and early-onset brain disease with oxidative phosphorylation (OXPHOS) deficiencies. We applied whole-exome sequencing in three patients with pediatric cardiomyopathy and early-onset brain disease with OXPHOS deficiencies. The brain pathology was studied by MRI analysis. In consanguineous patient 1, we identified a homozygous intronic variant...
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