Figure 1.

Neuroradiological and histological findings. (A) Pedigree of the family; the proband is indicated by the black arrow. (B) T1 sagittal brain MRI showing partial agenesis of corpus callosum (yellow arrowheads). (C) Cytochrome c oxidase staining (i) reveals a mild and generalized decreased activity with rare fibres with subsarcolemmal mitochondrial aggregates typical of ‘ragged-red’ alterations (succinate dehydrogenase, ii). (D) Complex IV in-gel activity is decreased in the proband’s muscle sample.