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Results 1 - 10 of 20 for Leigh Syndrome mtDNA mutation
Did you mean light Syndrome mtDNA mutation?
  1. Leigh syndrome 
    ... Genetic Testing Registry: Leigh syndrome Genetic Testing Registry: Leigh Syndrome (mtDNA mutation) Genetic Testing Registry: Leigh Syndrome (nuclear DNA mutation) ...
    https://medlineplus.gov/genetics/condition/leigh-syndrome - Genetics
  2. MT-ND4 gene 
    ... Mashima Y, Nonaka I, Goto Y. A novel mtDNA C11777A mutation in Leigh syndrome. Mitochondrion. 2003 Mar;2(4):293-304. doi: 10.1016/S1567-7249(03)00003-5. Citation on PubMed Lenaz G, Baracca ... associated with mtDNA mutations. Biochim Biophys Acta. 2004 Jul 23;1658(1- ...
    https://medlineplus.gov/genetics/gene/mt-nd4 - Genetics
  3. MT-ATP6 gene 
    ... may be the pathogenic mechanism for NARP and Leigh syndrome resulting from the T8993G mutation in mtDNA. Biochem J. 2006 May 1;395(3):493- ...
    https://medlineplus.gov/genetics/gene/mt-atp6 - Genetics
  4. MT-ND5 gene 
    ... dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated ... V, Zeviani M. A novel mtDNA mutation in the ND5 subunit of complex I in ...
    https://medlineplus.gov/genetics/gene/mt-nd5 - Genetics
  5. Neuropathy, ataxia, and retinitis pigmentosa 
    ... common than a similar but more severe condition, Leigh syndrome, which affects about 1 in 40,000 people. NARP results from mutations in the MT-ATP6 gene. This gene is contained in mitochondrial DNA, also known as mtDNA. Mitochondria are structures within cells that convert the ...
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  6. MT-ND6 gene 
    ... Kahler SG, Freckmann ML, Reddihough D, Thorburn DR. Leigh disease caused by the ... associated with mtDNA mutations. Biochim Biophys Acta. 2004 Jul 23;1658( ...
    https://medlineplus.gov/genetics/gene/mt-nd6 - Genetics
  7. Mitochondrial DNA 
    ... oxidative phosphorylation before the generation of ATP. The mtDNA mutations that cause this condition alter the proteins that ... important role in oxidative phosphorylation. The mitochondrial gene mutations that cause Leigh syndrome impair oxidative phosphorylation. Although the mechanism is unclear, ...
    https://medlineplus.gov/genetics/chromosome/mitochondrial-dna - Genetics
  8. Mitochondrial complex V deficiency 
    ... developing embryo, children can inherit disorders resulting from mtDNA mutations only from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their ... synthase deficiency Genetic Testing ...
    https://medlineplus.gov/.../mitochondrial-complex-v-deficiency - Genetics
  9. Mitochondrial complex I deficiency 
    ... developing embryo, children can inherit disorders resulting from mtDNA mutations only from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits ... NADH-coenzyme Q reductase deficiency ...
    https://medlineplus.gov/.../mitochondrial-complex-i-deficiency - Genetics
  10. Cytochrome c oxidase deficiency 
    ... embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits ... Complex IV deficiency COX deficiency ...
    https://medlineplus.gov/.../cytochrome-c-oxidase-deficiency - Genetics
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