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The present case report is dedicated to the memory of Dr. John Fernandes who was the primary pathologist contributing to this case report.
Conflict of interest
Dr. Mark Tarnopolsky is the CEO of Exerkine Corporation and the company is working on therapies that target mitochondrial dysfunction; the remaining authors declare that they have no conflict of interest.
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MacColl, C., Stein, N., Tarnopolsky, M. et al. Neurodevelopmental and associated changes in a patient with Xp22.31 duplication. Neurol Sci 41, 713–716 (2020). https://doi.org/10.1007/s10072-019-04065-1