A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families
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DOI: 10.1002/jimd.12526
Abstract: Mitochondrial complex V plays an important role in oxidative phosphorylation by catalyzing the generation of ATP. Most complex V subunits are nuclear encoded and not yet associated with recognized Mendelian disorders. Using exome sequencing, we… read more here.
Keywords: mitochondrial complex; variant atp5po; homozygous splice; atp5po ... See more keywords