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Relevant articles were identified by PubMed search from January 1, 1980 to March 31, 2016 and through hand search of relevant reference articles
SHANK3 mutations are likely to cause mitochondrial dysfunction in PMS because six mitochondrial genes, including NADH dehydrogenase 1 alpha subcomplex subunit 6 (NDUFA6 ), cytochrome c oxidase assembly ( SCO2 ), tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ( TRMU ), thymidine phosphorylase ( TYMP ), carnitine palmitoyltransferase 1B ( CPT1B ), and aconitase 2 ( ACO2 ), are adjacent to SHANK3 in the 22q13.3 region [339]