Condition: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
rs137853184
in
NDUFAF6
gene and
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
PMID 18614015
2008 A mitochondrial protein compendium elucidates complex I disease biology.
PMID 22019594
2011 Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.
PMID 26741492
2016 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.