Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands
Mol Genet Metab Rep. 2024 Dec 5;41:101168. doi: 10.1016/j.ymgmr.2024.101168. eCollection 2024 Dec. ABSTRACT BACKGROUND: Variants in NDUFAF6 have been reported to be associated with Leigh …