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Results 1 - 7 of 7 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 Nuclear ...
  2. ... 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 ...
  3. Mitochondrial Myopathies From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Muscle Disorders/Specifics ... Muscle Disorders
  4. ... mitochondrial complex V deficiency is caused by a mutation in a gene found in nuclear DNA, it has autosomal recessive inheritance. Autosomal recessive means ...
  5. ... 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 ...
  6. ... 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 ... phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. Hum Mol ...
  7. ... This Health Condition MedlinePlus Genetics provides information about Leigh syndrome More About This Health ... COMPLEX III DEFICIENCY, NUCLEAR TYPE 1; MC3DN1 BCS1 HOMOLOG, UBIQUINOL-CYTOCHROME C ...