13023_2017_624_MOESM3_ESM.pdf (5.56 MB)
Additional file 3: Figure S2. of Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
journal contribution
posted on 2017-04-20, 05:00 authored by Saara Tegelberg, Nikica Tomašić, Jukka Kallijärvi, Janne Purhonen, Eskil Elmér, Eva Lindberg, David Nord, Maria Soller, Nicole Lesko, Anna Wedell, Helene Bruhn, Christoph Freyer, Henrik Stranneheim, Rolf Wibom, Inger Nennesmo, Anna Wredenberg, Erik Eklund, Vineta FellmanCoronal section at the level of the left amygdala. The bulk of the white matter is reduced and shows discoloration in the temporal lobe. The corpus callosum is thin and there is moderate lateral and third ventricular dilation. Cortical laminar necrosis is seen in the cingulate gyrus, the superior frontal gyrus, the precentral gyrus, the inferior temporal gyrus and the lateral occipitotemporal gyrus (arrows). (PDF 5698 kb)