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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]
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