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The oxidative phosphorylation system, involved in cellular adenosine triphosphate production, is composed of 5 complexes (complexes I–V). The complex III catalyzes the transfer of electrons from ubiquinol to cytochrome c and contains 11 subunits among which only cytochrome b is encoded by a mitochondrial gene: MT-CYB. Nonsense, missense, and frameshift mutations in MT-CYB have been reported in patients mainly presenting with an exercise intolerance associated with encephalomyopathy, cardiomyopathy, or multisystemic disorder.1–4 We report an in-frame 21-base pair (bp) deletion in MT-CYB responsible for a severe clinical presentation with an atypical brain MRI of mitochondrial diseases.

MT-CYB deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles