NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect
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DOI: 10.1038/ejhg.2017.133
Abstract: Mitochondrial respiratory chain complex I consists of 44 different subunits and can be subgrouped into three functional modules: the Q-, the P- and the N-module. NDUFAF4 (C6ORF66) is an assembly factor of complex I that… read more here.
Keywords: assembly defect; leigh syndrome; assembly; ndufaf4 variants ... See more keywords