Gene: ND5
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs267606893 in
ND5 gene and
Leigh Disease
PMID 11938446 2002 Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
PMID 12796552 2003 A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
PMID 17317336 2007 Fatal manifestation of a de novo ND5 mutation: Insights into the pathogenetic mechanisms of mtDNA ND5 gene defects.
PMID 17400793 2007 Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
PMID 14684687 2003 Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.