Gene: CYTB
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
Gene: ND5
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
rs267606896 in
CYTB;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 17400793 2007 Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
PMID 15576045 2004 Clinical and molecular findings in children with complex I deficiency.
PMID 10589546 1999 The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS.
PMID 14520659 2003 Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease.
PMID 14730434 2004 Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan.
PMID 9299505 1997 Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.
PMID 12624137 2003 The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.
PMID 15521990 2004 Mitochondrial A135149 mutation without MELAS but in association with papillary thyroid carcinoma.
PMID 11198278 2001 A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.
PMID 14684687 2003 Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
rs267606894 in
CYTB;ND5 gene and
MELAS Syndrome
PMID 15767514 2005 Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.
PMID 9299505 1997 Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.
PMID 12509858 2003 Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations?
PMID 17400793 2007 Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
rs1131692063 in
CYTB;ND5 gene and
Optic Atrophy, Hereditary, Leber
PMID 27164671 2016 The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.
PMID 12736867 2003 Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.
PMID 18332249 2008 The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.
PMID 16816025 2006 The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype.