Variant: rs28384199

present in Gene: ND5;ND4 present in Chromosome: MT Position on Chromosome: 11777 Alleles of this Variant: C/A;G

rs28384199 in ND5;ND4 gene and Leigh Disease PMID 16120329 2003 A novel mtDNA C11777A mutation in Leigh syndrome.

PMID 15576045 2004 Clinical and molecular findings in children with complex I deficiency.

rs28384199 in ND5;ND4 gene and Optic Atrophy, Hereditary, Leber PMID 12707444 2003 Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA.

PMID 16120329 2003 A novel mtDNA C11777A mutation in Leigh syndrome.