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Description
Pro-apoptotic elements, BCL2 associated X, apoptosis regulator (BAX) and BCL2 antagonist/killer 1 (BAK1), drive processes such as mitochondrial outer membrane permeabilization and the creation of the mitochondrial permeability transition pore (MPTP), thus regulating the formation of pores in the outer mitochondrial membrane [112]
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Pyruvate dehydrogenase complex deficiency due to chromosome X-linked PDHA1 constitutes at least 75% of affected cases, with about 60% of those due to missense substitutions (17
