Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.
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DOI: 10.1016/j.ymgme.2020.10.005
Abstract: Isolated complex I (CI) deficiency is the most common cause of oxidative phosphorylation (OXPHOS) dysfunction. Whole-exome sequencing identified biallelic mutations in NDUFA8 (c.[293G > T]; [293G > T], encoding for an accessory subunit of CI, in two siblings with… read more here.
Keywords: siblings favorable; mutations ndufa8; two siblings; complex deficiency ... See more keywords