Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome.
Frye, R.E., Cox, D., Slattery, J., Tippett, M., Kahler, S., Granpeesheh, D., Damle, S., Legido, A., Goldenthal, M.J. Sci Rep. 2016 Jan 29;6:19544.
Mitochondrial disease in 22q13 duplication syndrome.
Frye RE. J Child Neurol. 2012; 27(7):942-9.