Condition: Optic Atrophy, Hereditary, Leber


rs199476115 in COX1;ND2 gene and Optic Atrophy, Hereditary, Leber PMID 1732158 1992 Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

PMID 1900003 1991 Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

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.

rs28359178 in CYTB;ND5;ND6 gene and Optic Atrophy, Hereditary, Leber PMID 1732158 1992 Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

PMID 16240359 2005 The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.

PMID 8213825 1993 When does bilateral optic atrophy become Leber hereditary optic neuropathy?

PMID 1900003 1991 Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

PMID 9452107 1998 Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.

PMID 8854108 1996 Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.

PMID 10447650 1999 Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.

PMID 1417830 1992 An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

PMID 11133798 2001 The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

rs387906425 in CYTB;ND6;ND5 gene and Optic Atrophy, Hereditary, Leber PMID 1900003 1991 Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

PMID 1732158 1992 Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

PMID 8213825 1993 When does bilateral optic atrophy become Leber hereditary optic neuropathy?

PMID 16240359 2005 The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.

rs199476118 in ND1;ND2 gene and Optic Atrophy, Hereditary, Leber PMID 1674640 1991 A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

PMID 1928099 1991 Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

PMID 1959619 1991 Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON).

PMID 2018041 1991 Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

PMID 1900003 1991 Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

PMID 1417830 1992 An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

PMID 25194554 2014 Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families.

PMID 11479733 2001 Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families.

PMID 19497304 2009 Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation.

PMID 15972314 2006 Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

rs28616230 in ND1;ND2;COX1 gene and Optic Atrophy, Hereditary, Leber PMID 24884847 2014 Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.

PMID 19555656 2009 Novel A14841G mutation is associated with high penetrance of LHON/C4171A family.

PMID 12112111 2002 Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis.

PMID 15972314 2006 Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

PMID 22879922 2012 Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.

rs199476119 in ND2;ND1;COX1 gene and Optic Atrophy, Hereditary, Leber PMID 1674640 1991 A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.

PMID 2018041 1991 Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

PMID 1959619 1991 Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON).

PMID 1900003 1991 Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

PMID 1928099 1991 Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.

PMID 1417830 1992 An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

rs1556423844 in ND4;ND3;ND4L;ND5 gene and Optic Atrophy, Hereditary, Leber PMID 8680405 1995 Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations.

PMID 11935318 2002 The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J.

rs199476112 in ND4;ND5 gene and Optic Atrophy, Hereditary, Leber PMID 1959619 1991 Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON).

PMID 3201231 1988 Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.

PMID 1959931 1991 Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy.

PMID 9452107 1998 Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.

PMID 1937476 1991 Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.

rs199476134 in ND4L;ND4;ATP6;COX3;ND3 gene and Optic Atrophy, Hereditary, Leber PMID 7726182 1995 A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy.

rs267606899 in ND5;CYTB gene and Optic Atrophy, Hereditary, Leber PMID 1732158 1992 Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

PMID 8213825 1993 When does bilateral optic atrophy become Leber hereditary optic neuropathy?

PMID 1900003 1991 Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.

PMID 16240359 2005 The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.

rs869025186 in ND5;CYTB;ND6 gene and Optic Atrophy, Hereditary, Leber PMID 8854108 1996 Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.

PMID 1417830 1992 An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

PMID 10447650 1999 Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.

PMID 11133798 2001 The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

PMID 9452107 1998 Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.

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.

rs199476106 in ND5;ND6;CYTB gene and Optic Atrophy, Hereditary, Leber PMID 9452107 1998 Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.

PMID 10447650 1999 Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.

PMID 1417830 1992 An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

PMID 11133798 2001 The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

PMID 8854108 1996 Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.

rs41518645 in ND6;CYTB gene and Optic Atrophy, Hereditary, Leber PMID 1732158 1992 Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

rs199476104 in ND6;CYTB;ND5 gene and Optic Atrophy, Hereditary, Leber PMID 9452107 1998 Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.

PMID 11133798 2001 The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.

PMID 8854108 1996 Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.

PMID 8470982 1993 Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation.

PMID 1417830 1992 An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.

PMID 10447650 1999 Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.