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Results 1 - 9 of 9 for Leigh Syndrome nuclear DNA mutation
  1. ... Registry: Leigh Syndrome (mtDNA mutation) Genetic Testing Registry: Leigh Syndrome (nuclear DNA mutation) Leigh syndrome Mitochondrial DNA-associated Leigh syndrome National ...
  2. ... MT-ND5 PubMed COMPLEX ... Vincent-Delorme C, Cormier-Daire V, Rustin P, Rotig A, Munnich A. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a ...
  3. ... gene involved.When this condition is caused by mutations in genes within nuclear DNA, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal ...
  4. ... Thomas NH, Harding AE, Hammans SR. A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome. Neurology. 1997 Aug;49(2):589-92. doi: ...
  5. ... Kahler SG, Freckmann ML, Reddihough D, Thorburn DR. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann Neurol. 2000 Jul;48( ...
  6. ... mitochondrial complex V deficiency is caused by a mutation in a gene found in nuclear DNA, it has autosomal recessive inheritance. Autosomal recessive means ...
  7. ... involved. When the disorder is caused by a mutation in a gene found in nuclear DNA, it has autosomal recessive or X-linked inheritance. Autosomal recessive means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal ...
  8. ... that is stored in the nucleus of cells (nuclear DNA), a few proteins and other molecules are produced ... This Health Condition MedlinePlus Genetics provides information about Leigh syndrome More About This Health ... tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. Hum Mol ...
  9. ... This Health Condition MedlinePlus Genetics provides information about Leigh syndrome More About This ... MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 BCS1 HOMOLOG, UBIQUINOL-CYTOCHROME C ...